dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47262879A>T , CM000668.2:g.47262879A>T | GRCh38 |
| NC_000006.11:g.47230615A>T , CM000668.1:g.47230615A>T | GRCh37 |
| NC_000006.10:g.47338574A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296861.2:c.1244-9358T>A MANE Select | ENSP00000296861.2:n.1244-9358T>A | |
| NM_014452.4:c.1244-9358T>A | NP_055267.1:n.1244-9358T>A | |
| XM_011514495.1:c.*43+4941T>A | XP_011512797.1:n.*43+4941T>A | |
| NM_014452.5:c.1244-9358T>A MANE Select | NP_055267.1:n.1244-9358T>A |