Linked Data
ClinVar Variation Id:
2181065
ClinVar RCV Id:
RCV002605949
dbSNP Id:
rs772196474
ExAC:
1:110171335 C / T
gnomAD v2:
1-110171335-C-T
gnomAD v4:
1-109628713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628713C>T , CM000663.2:g.109628713C>T | GRCh38 |
| NC_000001.10:g.110171335C>T , CM000663.1:g.110171335C>T | GRCh37 |
| NC_000001.9:g.109972858C>T | NCBI36 |
| NG_034075.1:g.13901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1478C>T | ENSP00000256578.4:p.Ser493Leu | |
| ENST00000358729.9:c.1478C>T | ENSP00000351573.5:p.Ser493Leu | |
| ENST00000369840.7:c.1478C>T | ENSP00000358855.3:p.Ser493Leu | |
| ENST00000474459.6:n.2097C>T | ||
| ENST00000476688.3:c.1160C>T | ENSP00000437025.2:p.Ser387Leu | |
| ENST00000486282.7:n.2434C>T | ||
| ENST00000524975.2:n.1959C>T | ||
| ENST00000525415.2:n.1994C>T | ||
| ENST00000526301.6:n.1541C>T | ||
| ENST00000527846.7:n.1333C>T | ||
| ENST00000528667.7:c.1478C>T MANE Select | ENSP00000436541.2:p.Ser493Leu | |
| ENST00000531203.6:c.1286C>T | ENSP00000431975.2:p.Ser429Leu | |
| ENST00000531734.6:c.1397C>T | ENSP00000433739.2:p.Ser466Leu | |
| ENST00000652975.2:c.*1230C>T | ENSP00000499620.2:n.*1230C>T | |
| ENST00000654851.1:n.1320C>T | ||
| ENST00000655992.1:c.1286C>T | ENSP00000499740.1:p.Ser429Leu | |
| ENST00000659122.2:c.1407+218C>T | ENSP00000499621.2:n.1407+218C>T | |
| ENST00000663749.1:c.*1225C>T | ENSP00000499739.1:n.*1225C>T | |
| ENST00000667949.2:c.878C>T | ENSP00000499465.2:p.Ser293Leu | |
| ENST00000668421.1:c.*1419C>T | ENSP00000499362.1:n.*1419C>T | |
| ENST00000679379.1:c.*1230C>T | ENSP00000505528.1:n.*1230C>T | |
| ENST00000679593.1:c.1478C>T | ENSP00000505999.1:p.Ser493Leu | |
| ENST00000679880.1:n.2014C>T | ||
| ENST00000679892.1:c.*1246C>T | ENSP00000504882.1:n.*1246C>T | |
| ENST00000679981.1:c.*1492C>T | ENSP00000506422.1:n.*1492C>T | |
| ENST00000680132.1:c.*1428C>T | ENSP00000505950.1:n.*1428C>T | |
| ENST00000680148.1:c.*1230C>T | ENSP00000505994.1:n.*1230C>T | |
| ENST00000680170.1:n.2343C>T | ||
| ENST00000680192.1:n.2436C>T | ||
| ENST00000680519.1:n.1714C>T | ||
| ENST00000680531.1:c.*1225C>T | ENSP00000506332.1:n.*1225C>T | |
| ENST00000680820.1:c.*1230C>T | ENSP00000505735.1:n.*1230C>T | |
| ENST00000680832.1:c.*1578C>T | ENSP00000505774.1:n.*1578C>T | |
| ENST00000680929.1:c.*1167C>T | ENSP00000504916.1:n.*1167C>T | |
| ENST00000681108.1:c.*1245+218C>T | ENSP00000506701.1:n.*1245+218C>T | |
| ENST00000681121.1:c.*588C>T | ENSP00000506466.1:n.*588C>T | |
| ENST00000681132.1:c.*1244C>T | ENSP00000506195.1:n.*1244C>T | |
| ENST00000681181.1:c.*1463C>T | ENSP00000506038.1:n.*1463C>T | |
| ENST00000681218.1:c.*1751C>T | ENSP00000505976.1:n.*1751C>T | |
| ENST00000681246.1:c.*1134C>T | ENSP00000505534.1:n.*1134C>T | |
| ENST00000681496.1:c.*1751C>T | ENSP00000505948.1:n.*1751C>T | |
| ENST00000681834.1:n.1817C>T | ||
| ENST00000681862.1:c.*1604C>T | ENSP00000505537.1:n.*1604C>T | |
| ENST00000256578.7:c.1640C>T | ENSP00000256578.3:p.Ser547Leu | |
| ENST00000342115.8:c.1397C>T | ENSP00000345498.4:p.Ser466Leu | |
| ENST00000358729.8:c.1415C>T | ENSP00000351573.4:p.Ser472Leu | |
| ENST00000369840.6:c.1551C>T | ||
| ENST00000393688.7:c.1283C>T | ENSP00000377292.3:p.Ser428Leu | |
| ENST00000526301.5:n.1679C>T | ||
| ENST00000528454.5:c.1286C>T | ENSP00000437164.1:p.Ser429Leu | |
| ENST00000528667.5:c.1640C>T | ENSP00000436541.1:p.Ser547Leu | |
| ENST00000532851.1:n.188C>T | ||
| ENST00000533132.1:n.180C>T | ||
| NM_001257360.1:c.1640C>T | NP_001244289.1:p.Ser547Leu | |
| NM_001257361.1:c.1286C>T | NP_001244290.1:p.Ser429Leu | |
| NM_001308170.1:c.1415C>T | NP_001295099.1:p.Ser472Leu | |
| NM_004037.7:c.1640C>T | NP_004028.3:p.Ser547Leu | |
| NM_139156.3:c.1397C>T | NP_631895.1:p.Ser466Leu | |
| NM_203404.1:c.1283C>T | NP_981949.1:p.Ser428Leu | |
| XM_011541247.1:c.1853C>T | XP_011539549.1:p.Ser618Leu | |
| XM_011541248.1:c.1782+218C>T | XP_011539550.1:n.1782+218C>T | |
| XR_946607.1:n.1876C>T | ||
| XM_024446431.1:c.1415C>T | XP_024302199.1:p.Ser472Leu | |
| XM_024446432.1:c.1430+218C>T | XP_024302200.1:n.1430+218C>T | |
| XR_002956282.1:n.2051C>T | ||
| NM_001257360.2:c.1640C>T | NP_001244289.1:p.Ser547Leu | |
| NM_001368809.2:c.1478C>T MANE Select | NP_001355738.1:p.Ser493Leu | |
| NM_004037.9:c.1478C>T | NP_004028.4:p.Ser493Leu | |
| NM_001257361.2:c.1286C>T | NP_001244290.1:p.Ser429Leu | |
| NM_139156.4:c.1397C>T | NP_631895.1:p.Ser466Leu |