dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27488094T>A , CM000671.2:g.27488094T>A | GRCh38 |
| NC_000009.11:g.27488092T>A , CM000671.1:g.27488092T>A | GRCh37 |
| NC_000009.10:g.27478092T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262244.6:c.-198-32346A>T MANE Select | ENSP00000262244.5:n.-198-32346A>T | |
| ENST00000262244.5:c.-198-32346A>T | ENSP00000262244.5:n.-198-32346A>T | |
| NM_024761.4:c.-198-32346A>T | NP_079037.3:n.-198-32346A>T | |
| NM_024761.5:c.-198-32346A>T MANE Select | NP_079037.3:n.-198-32346A>T |