Linked Data
ClinVar Variation Id:
161701
ClinVar RCV Id:
RCV000149237
dbSNP Id:
rs193920911
COSMIC:
COSM1180161
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.35729432G>T , CM000665.2:g.35729432G>T | GRCh38 |
| NC_000003.11:g.35770924G>T , CM000665.1:g.35770924G>T | GRCh37 |
| NC_000003.10:g.35745928G>T | NCBI36 |
| NG_050660.1:g.95259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684406.1:c.1355G>T MANE Select | ENSP00000506922.1:p.Gly452Val | |
| ENST00000187397.8:c.1355G>T | ENSP00000187397.4:p.Gly452Val | |
| ENST00000417925.5:c.1253G>T | ENSP00000412326.1:p.Gly418Val | |
| ENST00000425289.5:c.672G>T | ||
| ENST00000427590.1:c.608G>T | ||
| ENST00000444190.5:c.1193G>T | ENSP00000405276.1:p.Gly398Val | |
| ENST00000457165.5:c.329G>T | ENSP00000412233.1:p.Gly110Val | |
| ENST00000476327.1:n.211G>T | ||
| NM_001267617.1:c.1193G>T | NP_001254546.1:p.Gly398Val | |
| NM_001267619.1:c.1253G>T | NP_001254548.1:p.Gly418Val | |
| NM_016300.4:c.1355G>T | NP_057384.2:p.Gly452Val | |
| XM_005264811.1:c.1355G>T | XP_005264868.1:p.Gly452Val | |
| XM_006712943.1:c.1253G>T | XP_006713006.1:p.Gly418Val | |
| XM_006712944.1:c.1193G>T | XP_006713007.1:p.Gly398Val | |
| XM_011533298.1:c.1358G>T | XP_011531600.1:p.Gly453Val | |
| XM_011533299.1:c.1358G>T | XP_011531601.1:p.Gly453Val | |
| XM_011533300.1:c.1358G>T | XP_011531602.1:p.Gly453Val | |
| XM_011533301.1:c.1358G>T | XP_011531603.1:p.Gly453Val | |
| XM_011533302.1:c.1358G>T | XP_011531604.1:p.Gly453Val | |
| XM_011533303.1:c.1358G>T | XP_011531605.1:p.Gly453Val | |
| XM_011533304.1:c.1355G>T | XP_011531606.1:p.Gly452Val | |
| XM_011533305.1:c.1298G>T | XP_011531607.1:p.Gly433Val | |
| XM_011533306.1:c.1256G>T | XP_011531608.1:p.Gly419Val | |
| XM_011533307.1:c.1253G>T | XP_011531609.1:p.Gly418Val | |
| XM_011533308.1:c.1250G>T | XP_011531610.1:p.Gly417Val | |
| XM_011533309.1:c.1196G>T | XP_011531611.1:p.Gly399Val | |
| XM_011533310.1:c.566G>T | XP_011531612.1:p.Gly189Val | |
| XM_011533311.1:c.227G>T | XP_011531613.1:p.Gly76Val | |
| XM_005264811.3:c.1355G>T | XP_005264868.1:p.Gly452Val | |
| XM_006712943.3:c.1253G>T | XP_006713006.1:p.Gly418Val | |
| XM_006712944.3:c.1193G>T | XP_006713007.1:p.Gly398Val | |
| XM_011533298.3:c.1358G>T | XP_011531600.1:p.Gly453Val | |
| XM_011533299.3:c.1358G>T | XP_011531601.1:p.Gly453Val | |
| XM_011533300.3:c.1358G>T | XP_011531602.1:p.Gly453Val | |
| XM_011533301.3:c.1358G>T | XP_011531603.1:p.Gly453Val | |
| XM_011533302.3:c.1358G>T | XP_011531604.1:p.Gly453Val | |
| XM_011533303.3:c.1358G>T | XP_011531605.1:p.Gly453Val | |
| XM_017005574.2:c.1358G>T | XP_016861063.1:p.Gly453Val | |
| XM_017005575.2:c.1358G>T | XP_016861064.1:p.Gly453Val | |
| XM_017005576.2:c.1355G>T | XP_016861065.1:p.Gly452Val | |
| XM_017005577.2:c.1355G>T | XP_016861066.1:p.Gly452Val | |
| XM_017005579.2:c.1355G>T | XP_016861068.1:p.Gly452Val | |
| XM_017005580.2:c.1355G>T | XP_016861069.1:p.Gly452Val | |
| XM_017005581.2:c.1355G>T | XP_016861070.1:p.Gly452Val | |
| XM_017005582.2:c.1352G>T | XP_016861071.1:p.Gly451Val | |
| XM_017005583.2:c.1352G>T | XP_016861072.1:p.Gly451Val | |
| XM_017005584.2:c.1298G>T | XP_016861073.1:p.Gly433Val | |
| XM_017005585.2:c.1295G>T | XP_016861074.1:p.Gly432Val | |
| XM_017005586.2:c.1295G>T | XP_016861075.1:p.Gly432Val | |
| XM_017005587.2:c.1295G>T | XP_016861076.1:p.Gly432Val | |
| XM_017005588.2:c.1295G>T | XP_016861077.1:p.Gly432Val | |
| XM_017005589.2:c.1295G>T | XP_016861078.1:p.Gly432Val | |
| XM_017005590.2:c.1295G>T | XP_016861079.1:p.Gly432Val | |
| XM_017005591.2:c.1256G>T | XP_016861080.1:p.Gly419Val | |
| XM_017005592.2:c.1253G>T | XP_016861081.1:p.Gly418Val | |
| XM_017005593.2:c.1253G>T | XP_016861082.1:p.Gly418Val | |
| XM_017005594.1:c.1253G>T | XP_016861083.1:p.Gly418Val | |
| XM_017005595.2:c.1253G>T | XP_016861084.1:p.Gly418Val | |
| XM_017005596.2:c.1253G>T | XP_016861085.1:p.Gly418Val | |
| XM_017005597.2:c.1250G>T | XP_016861086.1:p.Gly417Val | |
| XM_017005598.2:c.1250G>T | XP_016861087.1:p.Gly417Val | |
| XM_017005599.2:c.1196G>T | XP_016861088.1:p.Gly399Val | |
| XM_017005600.2:c.1196G>T | XP_016861089.1:p.Gly399Val | |
| XM_017005601.2:c.1196G>T | XP_016861090.1:p.Gly399Val | |
| XM_017005602.2:c.1193G>T | XP_016861091.1:p.Gly398Val | |
| XM_017005603.2:c.1193G>T | XP_016861092.1:p.Gly398Val | |
| XM_017005604.2:c.1193G>T | XP_016861093.1:p.Gly398Val | |
| XM_017005605.2:c.1193G>T | XP_016861094.1:p.Gly398Val | |
| XM_017005606.2:c.1193G>T | XP_016861095.1:p.Gly398Val | |
| XM_017005607.2:c.866G>T | XP_016861096.1:p.Gly289Val | |
| XM_017005610.2:c.224G>T | XP_016861099.1:p.Gly75Val | |
| XM_017005612.2:c.224G>T | XP_016861101.1:p.Gly75Val | |
| XM_024453320.1:c.1358G>T | XP_024309088.1:p.Gly453Val | |
| XM_024453322.1:c.1295G>T | XP_024309090.1:p.Gly432Val | |
| XM_024453323.1:c.1193G>T | XP_024309091.1:p.Gly398Val | |
| XM_024453324.1:c.548G>T | XP_024309092.1:p.Gly183Val | |
| NM_001267617.2:c.1193G>T | NP_001254546.1:p.Gly398Val | |
| NM_001267619.2:c.1253G>T | NP_001254548.1:p.Gly418Val | |
| NM_001385484.1:c.1253G>T | NP_001372413.1:p.Gly418Val | |
| NM_001385485.1:c.1253G>T | NP_001372414.1:p.Gly418Val | |
| NM_001385486.1:c.1253G>T | NP_001372415.1:p.Gly418Val | |
| NM_001385487.1:c.1253G>T | NP_001372416.1:p.Gly418Val | |
| NM_001385488.1:c.1193G>T | NP_001372417.1:p.Gly398Val | |
| NM_001385489.1:c.1193G>T | NP_001372418.1:p.Gly398Val | |
| NM_001385490.1:c.1355G>T | NP_001372419.1:p.Gly452Val | |
| NM_001385491.1:c.1049G>T | NP_001372420.1:p.Gly350Val | |
| NM_001385492.1:c.1193G>T | NP_001372421.1:p.Gly398Val | |
| NM_001385495.1:c.1352G>T | NP_001372424.1:p.Gly451Val | |
| NM_001385496.1:c.1175G>T | NP_001372425.1:p.Gly392Val | |
| NM_001385497.1:c.1193G>T | NP_001372426.1:p.Gly398Val | |
| NM_001385517.1:c.914G>T | NP_001372446.1:p.Gly305Val | |
| NM_001385536.1:c.1250G>T | NP_001372465.1:p.Gly417Val | |
| NM_001385556.1:c.1184G>T | NP_001372485.1:p.Gly395Val | |
| NM_001385558.1:c.1295G>T | NP_001372487.1:p.Gly432Val | |
| NM_001385562.1:c.1355G>T MANE Select | NP_001372491.1:p.Gly452Val | |
| NM_001385563.1:c.1196G>T | NP_001372492.1:p.Gly399Val | |
| NM_001385564.1:c.1253G>T | NP_001372493.1:p.Gly418Val | |
| NM_001385565.1:c.1193G>T | NP_001372494.1:p.Gly398Val | |
| NM_001385566.1:c.1187G>T | NP_001372495.1:p.Gly396Val | |
| NM_001385567.1:c.1295G>T | NP_001372496.1:p.Gly432Val | |
| NM_001385573.1:c.1196G>T | NP_001372502.1:p.Gly399Val | |
| NM_001385574.1:c.1193G>T | NP_001372503.1:p.Gly398Val | |
| NM_001385576.1:c.1193G>T | NP_001372505.1:p.Gly398Val | |
| NM_001385577.1:c.1193G>T | NP_001372506.1:p.Gly398Val | |
| NM_001385578.1:c.1193G>T | NP_001372507.1:p.Gly398Val | |
| NM_001385580.1:c.1193G>T | NP_001372509.1:p.Gly398Val | |
| NM_001385581.1:c.1193G>T | NP_001372510.1:p.Gly398Val | |
| NM_001385582.1:c.1196G>T | NP_001372511.1:p.Gly399Val | |
| NM_001385584.1:c.1196G>T | NP_001372513.1:p.Gly399Val | |
| NM_001385585.1:c.1250G>T | NP_001372514.1:p.Gly417Val | |
| NM_001385587.1:c.1253G>T | NP_001372516.1:p.Gly418Val | |
| NM_001385588.2:c.1253G>T | NP_001372517.1:p.Gly418Val | |
| NM_001385589.1:c.1295G>T | NP_001372518.1:p.Gly432Val | |
| NM_001385590.1:c.1295G>T | NP_001372519.1:p.Gly432Val | |
| NM_001385591.1:c.1352G>T | NP_001372520.1:p.Gly451Val | |
| NM_001385592.1:c.1355G>T | NP_001372521.1:p.Gly452Val | |
| NM_001385593.1:c.1355G>T | NP_001372522.1:p.Gly452Val | |
| NM_001385594.1:c.1355G>T | NP_001372523.1:p.Gly452Val | |
| NM_001385595.1:c.1358G>T | NP_001372524.1:p.Gly453Val | |
| NM_016300.5:c.1355G>T | NP_057384.2:p.Gly452Val | |
| NR_169632.1:n.2204G>T | ||
| NR_169633.1:n.2381G>T | ||
| NR_169635.1:n.1902G>T | ||
| NR_169644.1:n.2279G>T | ||
| NR_169645.1:n.2173G>T | ||
| NR_169646.1:n.1729G>T | ||
| NR_169647.1:n.2230G>T | ||
| NR_170705.1:n.2532G>T | ||
| NR_170706.1:n.1766G>T | ||
| NR_170707.1:n.2272G>T |