Linked Data
ClinVar Variation Id:
210136
dbSNP Id:
rs114727970
ExAC:
1:110170866 C / T
gnomAD v2:
1-110170866-C-T
gnomAD v3:
1-109628244-C-T
gnomAD v4:
1-109628244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628244C>T , CM000663.2:g.109628244C>T | GRCh38 |
| NC_000001.10:g.110170866C>T , CM000663.1:g.110170866C>T | GRCh37 |
| NC_000001.9:g.109972389C>T | NCBI36 |
| NG_034075.1:g.13432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1242C>T | ENSP00000256578.4:p.Tyr414= | |
| ENST00000358729.9:c.1242C>T | ENSP00000351573.5:p.Tyr414= | |
| ENST00000369840.7:c.1242C>T | ENSP00000358855.3:p.Tyr414= | |
| ENST00000474459.6:n.1861C>T | ||
| ENST00000476688.3:c.924C>T | ENSP00000437025.2:p.Tyr308= | |
| ENST00000486282.7:n.1965C>T | ||
| ENST00000524975.2:n.1576C>T | ||
| ENST00000525415.2:n.1758C>T | ||
| ENST00000526301.6:n.1305C>T | ||
| ENST00000527846.7:n.1097C>T | ||
| ENST00000528667.7:c.1242C>T MANE Select | ENSP00000436541.2:p.Tyr414= | |
| ENST00000531203.6:c.1050C>T | ENSP00000431975.2:p.Tyr350= | |
| ENST00000531734.6:c.1161C>T | ENSP00000433739.2:p.Tyr387= | |
| ENST00000652975.2:c.*994C>T | ENSP00000499620.2:n.*994C>T | |
| ENST00000654851.1:n.1084C>T | ||
| ENST00000655992.1:c.1050C>T | ENSP00000499740.1:p.Tyr350= | |
| ENST00000659122.2:c.1242C>T | ENSP00000499621.2:p.Tyr414= | |
| ENST00000663749.1:c.*994C>T | ENSP00000499739.1:n.*994C>T | |
| ENST00000667949.2:c.642C>T | ENSP00000499465.2:p.Tyr214= | |
| ENST00000668421.1:c.*1183C>T | ENSP00000499362.1:n.*1183C>T | |
| ENST00000679379.1:c.*994C>T | ENSP00000505528.1:n.*994C>T | |
| ENST00000679593.1:c.1242C>T | ENSP00000505999.1:p.Tyr414= | |
| ENST00000679880.1:n.1762C>T | ||
| ENST00000679892.1:c.*1010C>T | ENSP00000504882.1:n.*1010C>T | |
| ENST00000679981.1:c.*1256C>T | ENSP00000506422.1:n.*1256C>T | |
| ENST00000680132.1:c.*1106C>T | ENSP00000505950.1:n.*1106C>T | |
| ENST00000680148.1:c.*994C>T | ENSP00000505994.1:n.*994C>T | |
| ENST00000680170.1:n.1874C>T | ||
| ENST00000680192.1:n.1967C>T | ||
| ENST00000680519.1:n.1478C>T | ||
| ENST00000680531.1:c.*994C>T | ENSP00000506332.1:n.*994C>T | |
| ENST00000680820.1:c.*994C>T | ENSP00000505735.1:n.*994C>T | |
| ENST00000680832.1:c.*1256C>T | ENSP00000505774.1:n.*1256C>T | |
| ENST00000680929.1:c.*964+30C>T | ENSP00000504916.1:n.*964+30C>T | |
| ENST00000681108.1:c.*994C>T | ENSP00000506701.1:n.*994C>T | |
| ENST00000681121.1:c.*352C>T | ENSP00000506466.1:n.*352C>T | |
| ENST00000681132.1:c.*1008C>T | ENSP00000506195.1:n.*1008C>T | |
| ENST00000681181.1:c.*994C>T | ENSP00000506038.1:n.*994C>T | |
| ENST00000681218.1:c.*1368C>T | ENSP00000505976.1:n.*1368C>T | |
| ENST00000681246.1:c.*898C>T | ENSP00000505534.1:n.*898C>T | |
| ENST00000681496.1:c.*1368C>T | ENSP00000505948.1:n.*1368C>T | |
| ENST00000681834.1:n.1581C>T | ||
| ENST00000681862.1:c.*1368C>T | ENSP00000505537.1:n.*1368C>T | |
| ENST00000256578.7:c.1404C>T | ENSP00000256578.3:p.Tyr468= | |
| ENST00000342115.8:c.1161C>T | ENSP00000345498.4:p.Tyr387= | |
| ENST00000358729.8:c.1179C>T | ENSP00000351573.4:p.Tyr393= | |
| ENST00000369840.6:c.1315C>T | ||
| ENST00000393688.7:c.1047C>T | ENSP00000377292.3:p.Tyr349= | |
| ENST00000526301.5:n.1443C>T | ||
| ENST00000528454.5:c.1050C>T | ENSP00000437164.1:p.Tyr350= | |
| ENST00000528667.5:c.1404C>T | ENSP00000436541.1:p.Tyr468= | |
| ENST00000529299.2:n.292C>T | ||
| NM_001257360.1:c.1404C>T | NP_001244289.1:p.Tyr468= | |
| NM_001257361.1:c.1050C>T | NP_001244290.1:p.Tyr350= | |
| NM_001308170.1:c.1179C>T | NP_001295099.1:p.Tyr393= | |
| NM_004037.7:c.1404C>T | NP_004028.3:p.Tyr468= | |
| NM_139156.3:c.1161C>T | NP_631895.1:p.Tyr387= | |
| NM_203404.1:c.1047C>T | NP_981949.1:p.Tyr349= | |
| XM_011541247.1:c.1617C>T | XP_011539549.1:p.Tyr539= | |
| XM_011541248.1:c.1617C>T | XP_011539550.1:p.Tyr539= | |
| XR_946607.1:n.1640C>T | ||
| XM_024446431.1:c.1179C>T | XP_024302199.1:p.Tyr393= | |
| XM_024446432.1:c.1179C>T | XP_024302200.1:p.Tyr393= | |
| XR_002956282.1:n.1815C>T | ||
| NM_001257360.2:c.1404C>T | NP_001244289.1:p.Tyr468= | |
| NM_001368809.2:c.1242C>T MANE Select | NP_001355738.1:p.Tyr414= | |
| NM_004037.9:c.1242C>T | NP_004028.4:p.Tyr414= | |
| NM_001257361.2:c.1050C>T | NP_001244290.1:p.Tyr350= | |
| NM_139156.4:c.1161C>T | NP_631895.1:p.Tyr387= |