dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53977896T>A , CM000681.2:g.53977896T>A | GRCh38 |
| NC_000019.9:g.54481150T>A , CM000681.1:g.54481150T>A | GRCh37 |
| NC_000019.8:g.59172962T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270458.4:c.284-250T>A MANE Select | ENSP00000270458.3:n.284-250T>A | |
| ENST00000270458.2:c.284-250T>A | ENSP00000270458.2:n.284-250T>A | |
| NM_031895.5:c.284-250T>A | NP_114101.4:n.284-250T>A | |
| NM_031895.6:c.284-250T>A MANE Select | NP_114101.4:n.284-250T>A |