Linked Data
ClinVar Variation Id:
7781
dbSNP Id:
rs121909151
ExAC:
6:137191047 C / T
gnomAD v2:
6-137191047-C-T
gnomAD v3:
6-136869909-C-T
gnomAD v4:
6-136869909-C-T
COSMIC:
COSM1220233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136869909C>T , CM000668.2:g.136869909C>T | GRCh38 |
| NC_000006.11:g.137191047C>T , CM000668.1:g.137191047C>T | GRCh37 |
| NC_000006.10:g.137232740C>T | NCBI36 |
| NG_008462.1:g.52330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.653C>T MANE Select | ENSP00000315680.3:p.Ala218Val | |
| ENST00000541292.6:c.653C>T | ENSP00000441004.1:p.Ala218Val | |
| ENST00000678002.1:c.341C>T | ||
| ENST00000678557.1:c.539C>T | ENSP00000502962.1:p.Ala180Val | |
| ENST00000678593.1:c.658C>T | ENSP00000503841.1:n.658C>T | |
| ENST00000679286.1:c.533C>T | ENSP00000503168.1:p.Ala178Val | |
| ENST00000318471.4:c.653C>T | ENSP00000315680.3:p.Ala218Val | |
| ENST00000541292.5:c.653C>T | ENSP00000441004.1:p.Ala218Val | |
| NM_000288.3:c.653C>T | NP_000279.1:p.Ala218Val | |
| XM_005267019.3:c.539C>T | XP_005267076.1:p.Ala180Val | |
| XM_006715502.1:c.359C>T | XP_006715565.1:p.Ala120Val | |
| XM_011535900.1:c.526+23728C>T | XP_011534202.1:n.526+23728C>T | |
| XM_005267019.4:c.539C>T | XP_005267076.1:p.Ala180Val | |
| XM_006715502.2:c.359C>T | XP_006715565.1:p.Ala120Val | |
| XM_017010934.2:c.526+23728C>T | XP_016866423.1:n.526+23728C>T | |
| NM_000288.4:c.653C>T MANE Select | NP_000279.1:p.Ala218Val |