Linked Data
ClinVar Variation Id:
196613
dbSNP Id:
rs111294536
ExAC:
19:36594542 C / T
gnomAD v2:
19-36594542-C-T
gnomAD v3:
19-36103640-C-T
gnomAD v4:
19-36103640-C-T
COSMIC:
COSM4077331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36103640C>T , CM000681.2:g.36103640C>T | GRCh38 |
| NC_000019.9:g.36594542C>T , CM000681.1:g.36594542C>T | GRCh37 |
| NC_000019.8:g.41286382C>T | NCBI36 |
| NG_028101.1:g.53760C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.3797C>T | ENSP00000270301.6:p.Ala1266Val | |
| ENST00000401500.7:c.3812C>T MANE Select | ENSP00000384792.1:p.Ala1271Val | |
| ENST00000587391.6:c.*3672C>T | ENSP00000465525.1:n.*3672C>T | |
| ENST00000679357.1:c.1892C>T | ||
| ENST00000679598.1:c.577C>T | ||
| ENST00000679682.1:c.3797C>T | ENSP00000506226.1:p.Ala1266Val | |
| ENST00000679714.1:c.3806C>T | ENSP00000506627.1:p.Ala1269Val | |
| ENST00000679757.1:c.3461C>T | ENSP00000505158.1:p.Ala1154Val | |
| ENST00000679858.1:c.*3194C>T | ENSP00000505655.1:n.*3194C>T | |
| ENST00000680211.1:c.413C>T | ENSP00000506102.1:p.Ala138Val | |
| ENST00000680280.1:n.1315C>T | ||
| ENST00000680349.1:n.2461C>T | ||
| ENST00000680403.1:c.3797C>T | ENSP00000505677.1:p.Ala1266Val | |
| ENST00000680564.1:c.3563C>T | ENSP00000505582.1:p.Ala1188Val | |
| ENST00000680590.1:c.*2192C>T | ENSP00000505350.1:n.*2192C>T | |
| ENST00000680597.1:c.545C>T | ||
| ENST00000680739.1:c.827C>T | ||
| ENST00000680773.1:n.2313C>T | ||
| ENST00000680806.1:c.*3115C>T | ENSP00000506418.1:n.*3115C>T | |
| ENST00000680997.1:n.1744C>T | ||
| ENST00000681608.1:n.1657C>T | ||
| ENST00000681625.1:c.*1144C>T | ENSP00000505555.1:n.*1144C>T | |
| ENST00000681648.1:n.1327C>T | ||
| ENST00000270301.11:c.3797C>T | ENSP00000270301.6:p.Ala1266Val | |
| ENST00000401500.6:c.3812C>T | ENSP00000384792.1:p.Ala1271Val | |
| ENST00000587391.5:c.*3672C>T | ENSP00000465525.1:n.*3672C>T | |
| NM_001083961.1:c.3812C>T | NP_001077430.1:p.Ala1271Val | |
| NM_173636.4:c.3797C>T | NP_775907.4:p.Ala1266Val | |
| XM_005258809.2:c.3701C>T | XP_005258866.1:p.Ala1234Val | |
| XM_011526837.1:c.3797C>T | XP_011525139.1:p.Ala1266Val | |
| XM_011526838.1:c.3563C>T | XP_011525140.1:p.Ala1188Val | |
| XM_011526839.1:c.3461C>T | XP_011525141.1:p.Ala1154Val | |
| XM_011526840.1:c.2804C>T | XP_011525142.1:p.Ala935Val | |
| XM_011526841.1:c.2390C>T | XP_011525143.1:p.Ala797Val | |
| XM_011526842.1:c.2243C>T | XP_011525144.1:p.Ala748Val | |
| XM_011526843.1:c.1559C>T | XP_011525145.1:p.Ala520Val | |
| XM_011526844.1:c.1559C>T | XP_011525146.1:p.Ala520Val | |
| XM_011526840.2:c.2804C>T | XP_011525142.1:p.Ala935Val | |
| XM_011526841.2:c.2390C>T | XP_011525143.1:p.Ala797Val | |
| XM_011526844.2:c.1559C>T | XP_011525146.1:p.Ala520Val | |
| XM_017026665.1:c.3812C>T | XP_016882154.1:p.Ala1271Val | |
| NM_001083961.2:c.3812C>T MANE Select | NP_001077430.1:p.Ala1271Val | |
| NM_173636.5:c.3797C>T | NP_775907.4:p.Ala1266Val |