Linked Data
ClinVar Variation Id:
752109
ClinVar RCV Id:
RCV000929229
dbSNP Id:
rs750869889
ExAC:
2:127808402 G / A
gnomAD v2:
2-127808402-G-A
gnomAD v4:
2-127050826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127050826G>A , CM000664.2:g.127050826G>A | GRCh38 |
| NC_000002.11:g.127808402G>A , CM000664.1:g.127808402G>A | GRCh37 |
| NC_000002.10:g.127524872G>A | NCBI36 |
| NG_012042.1:g.61463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352848.8:c.1131C>T | ENSP00000315284.4:p.Asp377= | |
| ENST00000316724.10:c.1548C>T MANE Select | ENSP00000316779.5:p.Asp516= | |
| ENST00000259238.8:c.1260C>T | ENSP00000259238.4:p.Asp420= | |
| ENST00000316724.9:c.1548C>T | ENSP00000316779.5:p.Asp516= | |
| ENST00000346226.7:c.1323C>T | ENSP00000315411.3:p.Asp441= | |
| ENST00000348750.8:c.996C>T | ENSP00000259237.5:p.Asp332= | |
| ENST00000351659.7:c.1287C>T | ENSP00000315388.3:p.Asp429= | |
| ENST00000352848.7:c.1131C>T | ENSP00000315284.4:p.Asp377= | |
| ENST00000357970.7:c.1419C>T | ENSP00000350654.3:p.Asp473= | |
| ENST00000376113.6:c.1041C>T | ENSP00000365281.2:p.Asp347= | |
| ENST00000393040.7:c.1215C>T | ENSP00000376760.3:p.Asp405= | |
| ENST00000393041.7:c.1194C>T | ENSP00000376761.3:p.Asp398= | |
| ENST00000409400.1:c.1086C>T | ENSP00000386797.1:p.Asp362= | |
| ENST00000462958.5:n.4414C>T | ||
| ENST00000466111.5:n.722C>T | ||
| ENST00000484253.1:n.733C>T | ||
| NM_004305.3:c.1131C>T | NP_004296.1:p.Asp377= | |
| NM_139343.2:c.1548C>T | NP_647593.1:p.Asp516= | |
| NM_139344.2:c.1419C>T | NP_647594.1:p.Asp473= | |
| NM_139345.2:c.1287C>T | NP_647595.1:p.Asp429= | |
| NM_139346.2:c.1260C>T | NP_647596.1:p.Asp420= | |
| NM_139347.2:c.1323C>T | NP_647597.1:p.Asp441= | |
| NM_139348.2:c.1215C>T | NP_647598.1:p.Asp405= | |
| NM_139349.2:c.1194C>T | NP_647599.1:p.Asp398= | |
| NM_139350.2:c.1086C>T | NP_647600.1:p.Asp362= | |
| NM_139351.2:c.996C>T | NP_647601.1:p.Asp332= | |
| XM_005263642.2:c.1593C>T | XP_005263699.1:p.Asp531= | |
| XM_005263643.2:c.1500C>T | XP_005263700.1:p.Asp500= | |
| XM_005263644.2:c.1455C>T | XP_005263701.1:p.Asp485= | |
| XM_005263645.1:c.1428C>T | XP_005263702.1:p.Asp476= | |
| XM_005263646.2:c.1179C>T | XP_005263703.1:p.Asp393= | |
| XM_005263647.2:c.1041C>T | XP_005263704.1:p.Asp347= | |
| XM_005263648.1:c.924C>T | XP_005263705.1:p.Asp308= | |
| XM_006712425.2:c.1461C>T | XP_006712488.1:p.Asp487= | |
| XM_006712426.2:c.1461C>T | XP_006712489.1:p.Asp487= | |
| XM_006712427.1:c.1383C>T | XP_006712490.1:p.Asp461= | |
| XM_006712428.2:c.1353C>T | XP_006712491.1:p.Asp451= | |
| XM_006712429.2:c.1332C>T | XP_006712492.1:p.Asp444= | |
| XM_006712430.2:c.1308C>T | XP_006712493.1:p.Asp436= | |
| XM_006712431.2:c.1263C>T | XP_006712494.1:p.Asp421= | |
| XM_006712432.2:c.1224C>T | XP_006712495.1:p.Asp408= | |
| XM_006712433.2:c.1134C>T | XP_006712496.1:p.Asp378= | |
| XM_006712434.2:c.1089C>T | XP_006712497.1:p.Asp363= | |
| XM_011510975.1:c.1512C>T | XP_011509277.1:p.Asp504= | |
| NM_001320632.1:c.1041C>T | NP_001307561.1:p.Asp347= | |
| NM_001320633.1:c.1179C>T | NP_001307562.1:p.Asp393= | |
| NM_001320634.1:c.924C>T | NP_001307563.1:p.Asp308= | |
| NM_001320640.1:c.1308C>T | NP_001307569.1:p.Asp436= | |
| NM_001320641.1:c.1455C>T | NP_001307570.1:p.Asp485= | |
| NM_001320642.1:c.1467C>T | NP_001307571.1:p.Asp489= | |
| XM_005263642.4:c.1593C>T | XP_005263699.1:p.Asp531= | |
| XM_005263643.4:c.1500C>T | XP_005263700.1:p.Asp500= | |
| XM_005263645.2:c.1428C>T | XP_005263702.1:p.Asp476= | |
| XM_006712425.4:c.1461C>T | XP_006712488.1:p.Asp487= | |
| XM_006712426.4:c.1461C>T | XP_006712489.1:p.Asp487= | |
| XM_006712427.2:c.1383C>T | XP_006712490.1:p.Asp461= | |
| XM_006712428.4:c.1353C>T | XP_006712491.1:p.Asp451= | |
| XM_006712429.4:c.1332C>T | XP_006712492.1:p.Asp444= | |
| XM_006712431.4:c.1263C>T | XP_006712494.1:p.Asp421= | |
| XM_006712432.4:c.1224C>T | XP_006712495.1:p.Asp408= | |
| XM_006712433.4:c.1134C>T | XP_006712496.1:p.Asp378= | |
| XM_006712434.4:c.1089C>T | XP_006712497.1:p.Asp363= | |
| XM_011510975.3:c.1512C>T | XP_011509277.1:p.Asp504= | |
| XM_017003819.1:c.1521C>T | XP_016859308.1:p.Asp507= | |
| XM_017003820.2:c.1323C>T | XP_016859309.1:p.Asp441= | |
| XM_017003821.2:c.1218C>T | XP_016859310.1:p.Asp406= | |
| XM_017003822.2:c.1125C>T | XP_016859311.1:p.Asp375= | |
| XM_017003823.1:c.1122C>T | XP_016859312.1:p.Asp374= | |
| XM_017003824.1:c.1053C>T | XP_016859313.1:p.Asp351= | |
| XM_017003825.1:c.1017C>T | XP_016859314.1:p.Asp339= | |
| XM_017003826.1:c.1014C>T | XP_016859315.1:p.Asp338= | |
| XM_017003827.2:c.1048-2193C>T | XP_016859316.1:n.1048-2193C>T | |
| XM_017003828.2:c.1003-2193C>T | XP_016859317.1:n.1003-2193C>T | |
| NM_139343.3:c.1548C>T MANE Select | NP_647593.1:p.Asp516= | |
| NM_001320632.2:c.1041C>T | NP_001307561.1:p.Asp347= | |
| NM_001320633.2:c.1179C>T | NP_001307562.1:p.Asp393= | |
| NM_001320640.2:c.1308C>T | NP_001307569.1:p.Asp436= | |
| NM_001320641.2:c.1455C>T | NP_001307570.1:p.Asp485= | |
| NM_004305.4:c.1131C>T | NP_004296.1:p.Asp377= | |
| NM_139344.3:c.1419C>T | NP_647594.1:p.Asp473= | |
| NM_139345.3:c.1287C>T | NP_647595.1:p.Asp429= | |
| NM_139346.3:c.1260C>T | NP_647596.1:p.Asp420= | |
| NM_139347.3:c.1323C>T | NP_647597.1:p.Asp441= | |
| NM_139348.3:c.1215C>T | NP_647598.1:p.Asp405= | |
| NM_139349.3:c.1194C>T | NP_647599.1:p.Asp398= | |
| NM_139350.3:c.1086C>T | NP_647600.1:p.Asp362= | |
| NM_139351.3:c.996C>T | NP_647601.1:p.Asp332= |