Linked Data
dbSNP Id:
rs549463745
ExAC:
11:44286488 G / A
gnomAD v2:
11-44286488-G-A
gnomAD v3:
11-44264938-G-A
gnomAD v4:
11-44264938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44264938G>A , CM000673.2:g.44264938G>A | GRCh38 |
| NC_000011.9:g.44286488G>A , CM000673.1:g.44286488G>A | GRCh37 |
| NC_000011.8:g.44243064G>A | NCBI36 |
| NG_015809.1:g.50229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.1152C>T MANE Select | ENSP00000498217.1:p.Gly384= | |
| ENST00000329255.3:c.1152C>T | ENSP00000332744.3:p.Gly384= | |
| NM_021926.3:c.1152C>T | NP_068745.2:p.Gly384= | |
| XM_011520265.1:c.630C>T | XP_011518567.1:p.Gly210= | |
| XM_011520266.1:c.630C>T | XP_011518568.1:p.Gly210= | |
| NM_021926.4:c.1152C>T MANE Select | NP_068745.2:p.Gly384= |