Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830703T>A , CM000664.2:g.112830703T>A | GRCh38 |
| NC_000002.11:g.113588280T>A , CM000664.1:g.113588280T>A | GRCh37 |
| NC_000002.10:g.113304751T>A | NCBI36 |
| NG_008851.1:g.11077A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.598-130A>T MANE Select | ENSP00000263341.2:n.598-130A>T | |
| ENST00000263341.6:c.598-130A>T | ENSP00000263341.2:n.598-130A>T | |
| ENST00000491056.5:n.1405-130A>T | ||
| NM_000576.2:c.598-130A>T | NP_000567.1:n.598-130A>T | |
| XM_006712496.1:c.364-130A>T | XP_006712559.1:n.364-130A>T | |
| XM_017003988.2:c.505-130A>T | XP_016859477.1:n.505-130A>T | |
| NM_000576.3:c.598-130A>T MANE Select | NP_000567.1:n.598-130A>T |