Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16255812G>T , CM000668.2:g.16255812G>T | GRCh38 |
| NC_000006.11:g.16256043G>T , CM000668.1:g.16256043G>T | GRCh37 |
| NC_000006.10:g.16364022G>T | NCBI36 |
| NG_013303.1:g.22233G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006877.4:c.465+1077G>T MANE Select | NP_006868.3:n.465+1077G>T |
| ENST00000259727.5:c.465+1077G>T MANE Select | ENSP00000259727.4:n.465+1077G>T |
| NM_006877.3:c.465+1077G>T | NP_006868.3:n.465+1077G>T |
| ENST00000259727.4:c.465+1077G>T | ENSP00000259727.4:n.465+1077G>T |
| XM_011514508.1:c.465+1077G>T | XP_011512810.1:n.465+1077G>T |
| XM_011514508.2:c.465+1077G>T | XP_011512810.1:n.465+1077G>T |