dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93286453A>T , CM000675.2:g.93286453A>T | GRCh38 |
| NC_000013.10:g.93938706A>T , CM000675.1:g.93938706A>T | GRCh37 |
| NC_000013.9:g.92736707A>T | NCBI36 |
| NG_011880.1:g.64629A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.160+58837A>T MANE Select | ENSP00000366246.3:n.160+58837A>T | |
| ENST00000377047.8:c.160+58837A>T | ENSP00000366246.3:n.160+58837A>T | |
| NM_005708.3:c.160+58837A>T | NP_005699.1:n.160+58837A>T | |
| NM_005708.4:c.160+58837A>T | NP_005699.1:n.160+58837A>T | |
| XM_017020299.2:c.-51+20496A>T | XP_016875788.1:n.-51+20496A>T | |
| NM_005708.5:c.160+58837A>T MANE Select | NP_005699.1:n.160+58837A>T |