Linked Data
dbSNP Id:
rs1055617772
gnomAD v2:
12-53207756-G-A
gnomAD v3:
12-52813972-G-A
gnomAD v4:
12-52813972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813972G>A , CM000674.2:g.52813972G>A | GRCh38 |
| NC_000012.11:g.53207756G>A , CM000674.1:g.53207756G>A | GRCh37 |
| NC_000012.10:g.51494023G>A | NCBI36 |
| NG_007380.1:g.5580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.87C>T MANE Select | ENSP00000448220.1:p.Ala29= | |
| ENST00000548097.5:c.87C>T | ENSP00000449755.1:p.Ala29= | |
| ENST00000551956.1:c.87C>T | ENSP00000448220.1:p.Ala29= | |
| ENST00000552668.1:c.87C>T | ENSP00000447320.1:p.Ala29= | |
| NM_002272.3:c.87C>T | NP_002263.3:p.Ala29= | |
| NM_002272.4:c.87C>T MANE Select | NP_002263.3:p.Ala29= |