Linked Data
ClinVar Variation Id:
968
dbSNP Id:
rs121918165
ExAC:
6:80203353 G / A
gnomAD v2:
6-80203353-G-A
gnomAD v3:
6-79493636-G-A
gnomAD v4:
6-79493636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79493636G>A , CM000668.2:g.79493636G>A | GRCh38 |
| NC_000006.11:g.80203353G>A , CM000668.1:g.80203353G>A | GRCh37 |
| NC_000006.10:g.80260072G>A | NCBI36 |
| NG_016011.1:g.48795C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369846.9:c.835C>T MANE Select | ENSP00000358861.4:p.Gln279Ter | |
| ENST00000369846.8:c.835C>T | ENSP00000358861.4:p.Gln279Ter | |
| ENST00000392959.5:c.835C>T | ENSP00000376686.1:p.Gln279Ter | |
| ENST00000467898.3:c.835C>T | ENSP00000474463.1:p.Gln279Ter | |
| NM_001122769.2:c.835C>T | NP_001116241.1:p.Gln279Ter | |
| NM_181714.3:c.835C>T | NP_859065.2:p.Gln279Ter | |
| XM_005248665.3:c.835C>T | XP_005248722.1:p.Gln279Ter | |
| XM_011535504.1:c.835C>T | XP_011533806.1:p.Gln279Ter | |
| XM_005248665.4:c.835C>T | XP_005248722.1:p.Gln279Ter | |
| NM_001122769.3:c.835C>T MANE Select | NP_001116241.1:p.Gln279Ter | |
| NM_181714.4:c.835C>T | NP_859065.2:p.Gln279Ter |