dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68232096A>T , CM000672.2:g.68232096A>T | GRCh38 |
| NC_000010.10:g.69991853A>T , CM000672.1:g.69991853A>T | GRCh37 |
| NC_000010.9:g.69661859A>T | NCBI36 |
| NG_031934.1:g.5018T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.-419T>A MANE Select | ENSP00000362777.3:n.-419T>A | |
| ENST00000373673.4:c.-419T>A | ENSP00000362777.3:n.-419T>A | |
| NM_145178.3:c.-419T>A | NP_660161.1:n.-419T>A | |
| NM_145178.4:c.-419T>A MANE Select | NP_660161.1:n.-419T>A |