Linked Data
dbSNP Id:
rs780728456
ExAC:
12:52886499 C / T
gnomAD v2:
12-52886499-C-T
gnomAD v4:
12-52492715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492715C>T , CM000674.2:g.52492715C>T | GRCh38 |
| NC_000012.11:g.52886499C>T , CM000674.1:g.52886499C>T | GRCh37 |
| NC_000012.10:g.51172766C>T | NCBI36 |
| NG_008298.1:g.5683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.474G>A MANE Select | ENSP00000369317.3:p.Arg158= | |
| ENST00000330722.6:c.474G>A | ENSP00000369317.3:p.Arg158= | |
| NM_005554.3:c.474G>A | NP_005545.1:p.Arg158= | |
| NM_005554.4:c.474G>A MANE Select | NP_005545.1:p.Arg158= |