Linked Data
ClinVar Variation Id:
1091600
ClinVar RCV Id:
RCV001411140
dbSNP Id:
rs1398854153
gnomAD v3:
2-127048610-C-T
gnomAD v4:
2-127048610-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127048610C>T , CM000664.2:g.127048610C>T | GRCh38 |
| NC_000002.11:g.127806186C>T , CM000664.1:g.127806186C>T | GRCh37 |
| NC_000002.10:g.127522656C>T | NCBI36 |
| NG_012042.1:g.63679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352848.8:c.1281G>A | ENSP00000315284.4:p.Val427= | |
| ENST00000316724.10:c.1698G>A MANE Select | ENSP00000316779.5:p.Val566= | |
| ENST00000259238.8:c.1410G>A | ENSP00000259238.4:p.Val470= | |
| ENST00000316724.9:c.1698G>A | ENSP00000316779.5:p.Val566= | |
| ENST00000346226.7:c.1473G>A | ENSP00000315411.3:p.Val491= | |
| ENST00000348750.8:c.1146G>A | ENSP00000259237.5:p.Val382= | |
| ENST00000351659.7:c.1437G>A | ENSP00000315388.3:p.Val479= | |
| ENST00000352848.7:c.1281G>A | ENSP00000315284.4:p.Val427= | |
| ENST00000357970.7:c.1569G>A | ENSP00000350654.3:p.Val523= | |
| ENST00000376113.6:c.1191G>A | ENSP00000365281.2:p.Val397= | |
| ENST00000393040.7:c.1365G>A | ENSP00000376760.3:p.Val455= | |
| ENST00000393041.7:c.1344G>A | ENSP00000376761.3:p.Val448= | |
| ENST00000409400.1:c.1236G>A | ENSP00000386797.1:p.Val412= | |
| ENST00000462958.5:n.4564G>A | ||
| NM_004305.3:c.1281G>A | NP_004296.1:p.Val427= | |
| NM_139343.2:c.1698G>A | NP_647593.1:p.Val566= | |
| NM_139344.2:c.1569G>A | NP_647594.1:p.Val523= | |
| NM_139345.2:c.1437G>A | NP_647595.1:p.Val479= | |
| NM_139346.2:c.1410G>A | NP_647596.1:p.Val470= | |
| NM_139347.2:c.1473G>A | NP_647597.1:p.Val491= | |
| NM_139348.2:c.1365G>A | NP_647598.1:p.Val455= | |
| NM_139349.2:c.1344G>A | NP_647599.1:p.Val448= | |
| NM_139350.2:c.1236G>A | NP_647600.1:p.Val412= | |
| NM_139351.2:c.1146G>A | NP_647601.1:p.Val382= | |
| XM_005263642.2:c.1743G>A | XP_005263699.1:p.Val581= | |
| XM_005263643.2:c.1650G>A | XP_005263700.1:p.Val550= | |
| XM_005263644.2:c.1605G>A | XP_005263701.1:p.Val535= | |
| XM_005263645.1:c.1578G>A | XP_005263702.1:p.Val526= | |
| XM_005263646.2:c.1329G>A | XP_005263703.1:p.Val443= | |
| XM_005263647.2:c.1191G>A | XP_005263704.1:p.Val397= | |
| XM_005263648.1:c.1074G>A | XP_005263705.1:p.Val358= | |
| XM_006712425.2:c.1611G>A | XP_006712488.1:p.Val537= | |
| XM_006712426.2:c.1611G>A | XP_006712489.1:p.Val537= | |
| XM_006712427.1:c.1533G>A | XP_006712490.1:p.Val511= | |
| XM_006712428.2:c.1503G>A | XP_006712491.1:p.Val501= | |
| XM_006712429.2:c.1482G>A | XP_006712492.1:p.Val494= | |
| XM_006712430.2:c.1458G>A | XP_006712493.1:p.Val486= | |
| XM_006712431.2:c.1413G>A | XP_006712494.1:p.Val471= | |
| XM_006712432.2:c.1374G>A | XP_006712495.1:p.Val458= | |
| XM_006712433.2:c.1284G>A | XP_006712496.1:p.Val428= | |
| XM_006712434.2:c.1239G>A | XP_006712497.1:p.Val413= | |
| XM_011510975.1:c.1662G>A | XP_011509277.1:p.Val554= | |
| NM_001320632.1:c.1191G>A | NP_001307561.1:p.Val397= | |
| NM_001320633.1:c.1329G>A | NP_001307562.1:p.Val443= | |
| NM_001320634.1:c.1074G>A | NP_001307563.1:p.Val358= | |
| NM_001320640.1:c.1458G>A | NP_001307569.1:p.Val486= | |
| NM_001320641.1:c.1605G>A | NP_001307570.1:p.Val535= | |
| NM_001320642.1:c.1617G>A | NP_001307571.1:p.Val539= | |
| XM_005263642.4:c.1743G>A | XP_005263699.1:p.Val581= | |
| XM_005263643.4:c.1650G>A | XP_005263700.1:p.Val550= | |
| XM_005263645.2:c.1578G>A | XP_005263702.1:p.Val526= | |
| XM_006712425.4:c.1611G>A | XP_006712488.1:p.Val537= | |
| XM_006712426.4:c.1611G>A | XP_006712489.1:p.Val537= | |
| XM_006712427.2:c.1533G>A | XP_006712490.1:p.Val511= | |
| XM_006712428.4:c.1503G>A | XP_006712491.1:p.Val501= | |
| XM_006712429.4:c.1482G>A | XP_006712492.1:p.Val494= | |
| XM_006712431.4:c.1413G>A | XP_006712494.1:p.Val471= | |
| XM_006712432.4:c.1374G>A | XP_006712495.1:p.Val458= | |
| XM_006712433.4:c.1284G>A | XP_006712496.1:p.Val428= | |
| XM_006712434.4:c.1239G>A | XP_006712497.1:p.Val413= | |
| XM_011510975.3:c.1662G>A | XP_011509277.1:p.Val554= | |
| XM_017003819.1:c.1671G>A | XP_016859308.1:p.Val557= | |
| XM_017003820.2:c.1473G>A | XP_016859309.1:p.Val491= | |
| XM_017003821.2:c.1368G>A | XP_016859310.1:p.Val456= | |
| XM_017003822.2:c.1275G>A | XP_016859311.1:p.Val425= | |
| XM_017003823.1:c.1272G>A | XP_016859312.1:p.Val424= | |
| XM_017003824.1:c.1203G>A | XP_016859313.1:p.Val401= | |
| XM_017003825.1:c.1167G>A | XP_016859314.1:p.Val389= | |
| XM_017003826.1:c.1164G>A | XP_016859315.1:p.Val388= | |
| XM_017003827.2:c.1071G>A | XP_016859316.1:p.Val357= | |
| XM_017003828.2:c.1026G>A | XP_016859317.1:p.Val342= | |
| NM_139343.3:c.1698G>A MANE Select | NP_647593.1:p.Val566= | |
| NM_001320632.2:c.1191G>A | NP_001307561.1:p.Val397= | |
| NM_001320633.2:c.1329G>A | NP_001307562.1:p.Val443= | |
| NM_001320640.2:c.1458G>A | NP_001307569.1:p.Val486= | |
| NM_001320641.2:c.1605G>A | NP_001307570.1:p.Val535= | |
| NM_004305.4:c.1281G>A | NP_004296.1:p.Val427= | |
| NM_139344.3:c.1569G>A | NP_647594.1:p.Val523= | |
| NM_139345.3:c.1437G>A | NP_647595.1:p.Val479= | |
| NM_139346.3:c.1410G>A | NP_647596.1:p.Val470= | |
| NM_139347.3:c.1473G>A | NP_647597.1:p.Val491= | |
| NM_139348.3:c.1365G>A | NP_647598.1:p.Val455= | |
| NM_139349.3:c.1344G>A | NP_647599.1:p.Val448= | |
| NM_139350.3:c.1236G>A | NP_647600.1:p.Val412= | |
| NM_139351.3:c.1146G>A | NP_647601.1:p.Val382= |