Linked Data
dbSNP Id:
rs200693998
ExAC:
12:52881857 G / A
gnomAD v2:
12-52881857-G-A
gnomAD v3:
12-52488073-G-A
gnomAD v4:
12-52488073-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488073G>A , CM000674.2:g.52488073G>A | GRCh38 |
| NC_000012.11:g.52881857G>A , CM000674.1:g.52881857G>A | GRCh37 |
| NC_000012.10:g.51168124G>A | NCBI36 |
| NG_008298.1:g.10325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1455C>T MANE Select | ENSP00000369317.3:p.Asn485= | |
| ENST00000330722.6:c.1455C>T | ENSP00000369317.3:p.Asn485= | |
| NM_005554.3:c.1455C>T | NP_005545.1:p.Asn485= | |
| NM_005554.4:c.1455C>T MANE Select | NP_005545.1:p.Asn485= |