dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27490969A>T , CM000671.2:g.27490969A>T | GRCh38 |
| NC_000009.11:g.27490967A>T , CM000671.1:g.27490967A>T | GRCh37 |
| NC_000009.10:g.27480967A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262244.6:c.-198-35221T>A MANE Select | ENSP00000262244.5:n.-198-35221T>A | |
| ENST00000262244.5:c.-198-35221T>A | ENSP00000262244.5:n.-198-35221T>A | |
| NM_024761.4:c.-198-35221T>A | NP_079037.3:n.-198-35221T>A | |
| NM_024761.5:c.-198-35221T>A MANE Select | NP_079037.3:n.-198-35221T>A |