Linked Data
ClinVar Variation Id:
419282
dbSNP Id:
rs200712760
ExAC:
1:216061824 G / A
gnomAD v2:
1-216061824-G-A
gnomAD v3:
1-215888482-G-A
gnomAD v4:
1-215888482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215888482G>A , CM000663.2:g.215888482G>A | GRCh38 |
| NC_000001.10:g.216061824G>A , CM000663.1:g.216061824G>A | GRCh37 |
| NC_000001.9:g.214128447G>A | NCBI36 |
| NG_009497.1:g.539915C>T | |
| NG_009497.2:g.539967C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.8167C>T MANE Select | ENSP00000305941.3:p.Arg2723Ter | |
| ENST00000674083.1:c.8167C>T | ENSP00000501296.1:p.Arg2723Ter | |
| ENST00000307340.7:c.8167C>T | ENSP00000305941.3:p.Arg2723Ter | |
| NM_206933.2:c.8167C>T | NP_996816.2:p.Arg2723Ter | |
| NM_206933.3:c.8167C>T | NP_996816.2:p.Arg2723Ter | |
| NM_206933.4:c.8167C>T MANE Select | NP_996816.3:p.Arg2723Ter |