dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95308945A>T , CM000669.2:g.95308945A>T | GRCh38 |
| NC_000007.13:g.94938257A>T , CM000669.1:g.94938257A>T | GRCh37 |
| NC_000007.12:g.94776193A>T | NCBI36 |
| NG_008779.1:g.20628T>A | |
| NG_008779.2:g.20762T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.498-734T>A MANE Select | ENSP00000222381.3:n.498-734T>A | |
| ENST00000222381.7:c.498-734T>A | ENSP00000222381.3:n.498-734T>A | |
| ENST00000433729.1:c.*223-734T>A | ENSP00000407359.1:n.*223-734T>A | |
| NM_000446.5:c.498-734T>A | NP_000437.3:n.498-734T>A | |
| NM_000446.6:c.498-734T>A | NP_000437.3:n.498-734T>A | |
| NM_000446.7:c.498-734T>A MANE Select | NP_000437.3:n.498-734T>A |