Linked Data
dbSNP Id:
rs768734860
ExAC:
12:52881878 G / T
gnomAD v2:
12-52881878-G-T
gnomAD v4:
12-52488094-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488094G>T , CM000674.2:g.52488094G>T | GRCh38 |
| NC_000012.11:g.52881878G>T , CM000674.1:g.52881878G>T | GRCh37 |
| NC_000012.10:g.51168145G>T | NCBI36 |
| NG_008298.1:g.10304C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1434C>A MANE Select | ENSP00000369317.3:p.Gly478= | |
| ENST00000330722.6:c.1434C>A | ENSP00000369317.3:p.Gly478= | |
| NM_005554.3:c.1434C>A | NP_005545.1:p.Gly478= | |
| NM_005554.4:c.1434C>A MANE Select | NP_005545.1:p.Gly478= |