Linked Data
dbSNP Id:
rs777474369
ExAC:
12:52881870 A / G
gnomAD v2:
12-52881870-A-G
gnomAD v4:
12-52488086-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488086A>G , CM000674.2:g.52488086A>G | GRCh38 |
| NC_000012.11:g.52881870A>G , CM000674.1:g.52881870A>G | GRCh37 |
| NC_000012.10:g.51168137A>G | NCBI36 |
| NG_008298.1:g.10312T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1442T>C MANE Select | ENSP00000369317.3:p.Val481Ala | |
| ENST00000330722.6:c.1442T>C | ENSP00000369317.3:p.Val481Ala | |
| NM_005554.3:c.1442T>C | NP_005545.1:p.Val481Ala | |
| NM_005554.4:c.1442T>C MANE Select | NP_005545.1:p.Val481Ala |