Linked Data
ClinVar Variation Id:
412511
dbSNP Id:
rs200255724
ExAC:
11:111959690 C / T
gnomAD v2:
11-111959690-C-T
gnomAD v3:
11-112088966-C-T
gnomAD v4:
11-112088966-C-T
COSMIC:
COSM6304559
PubMed:
PMID:14985401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112088966C>T , CM000673.2:g.112088966C>T | GRCh38 |
| NC_000011.9:g.111959690C>T , CM000673.1:g.111959690C>T | GRCh37 |
| NC_000011.8:g.111464900C>T | NCBI36 |
| NG_012337.2:g.7120C>T | |
| NG_033145.1:g.2833G>A | |
| NG_012337.3:g.7120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.269C>T | ENSP00000432946.2:p.Ala90Val | |
| ENST00000534010.2:c.269C>T | ENSP00000433202.2:p.Ala90Val | |
| ENST00000375549.8:c.269C>T MANE Select | ENSP00000364699.3:p.Ala90Val | |
| ENST00000528021.6:c.269C>T | ENSP00000432465.1:p.Ala90Val | |
| ENST00000640554.1:c.*341C>T | ENSP00000491141.1:n.*341C>T | |
| ENST00000375549.7:c.269C>T | ENSP00000364699.3:p.Ala90Val | |
| ENST00000525291.5:c.152C>T | ENSP00000436669.1:p.Ala51Val | |
| ENST00000525987.5:n.274C>T | ||
| ENST00000526592.5:c.269C>T | ENSP00000432005.1:p.Ala90Val | |
| ENST00000528021.5:c.269C>T | ENSP00000432465.1:p.Ala90Val | |
| ENST00000528048.5:c.169+993C>T | ENSP00000436217.1:n.169+993C>T | |
| ENST00000528182.5:c.269C>T | ENSP00000435475.1:p.Ala90Val | |
| ENST00000530923.5:c.259C>T | ||
| ENST00000531744.5:c.269C>T | ENSP00000456957.1:p.Ala90Val | |
| ENST00000532699.1:c.269C>T | ENSP00000456434.1:p.Ala90Val | |
| ENST00000534010.1:c.100C>T | ||
| ENST00000614349.4:c.269C>T | ENSP00000480666.1:p.Ala90Val | |
| NM_001276503.1:c.169+993C>T | NP_001263432.1:n.169+993C>T | |
| NM_001276504.1:c.152C>T | NP_001263433.1:p.Ala51Val | |
| NM_001276506.1:c.269C>T | NP_001263435.1:p.Ala90Val | |
| NM_003002.3:c.269C>T | NP_002993.1:p.Ala90Val | |
| NR_077060.1:n.353C>T | ||
| NM_003002.4:c.269C>T MANE Select | NP_002993.1:p.Ala90Val | |
| NM_001276503.2:c.169+993C>T | NP_001263432.1:n.169+993C>T | |
| NM_001276504.2:c.152C>T | NP_001263433.1:p.Ala51Val | |
| NM_001276506.2:c.269C>T | NP_001263435.1:p.Ala90Val | |
| NR_077060.2:n.304C>T |