dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12871850A>T , CM000685.2:g.12871850A>T | GRCh38 |
| NC_000023.10:g.12889969A>T , CM000685.1:g.12889969A>T | GRCh37 |
| NC_000023.9:g.12799890A>T | NCBI36 |
| NG_012569.1:g.9768A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380659.4:c.3+4269A>T MANE Select | ENSP00000370034.3:n.3+4269A>T | |
| ENST00000380659.3:c.3+4269A>T | ENSP00000370034.3:n.3+4269A>T | |
| ENST00000484204.1:n.103+4269A>T | ||
| NM_016562.3:c.3+4269A>T | NP_057646.1:n.3+4269A>T | |
| NM_016562.4:c.3+4269A>T MANE Select | NP_057646.1:n.3+4269A>T |