Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63577393T>G , CM000672.2:g.63577393T>G | GRCh38 |
| NC_000010.10:g.65337153T>G , CM000672.1:g.65337153T>G | GRCh37 |
| NC_000010.9:g.65007159T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001330.3:c.105+10983T>G MANE Select | NP_001001330.1:n.105+10983T>G |
| ENST00000373758.5:c.105+10983T>G MANE Select | ENSP00000362863.4:n.105+10983T>G |
| NM_001001330.2:c.105+10983T>G | NP_001001330.1:n.105+10983T>G |
| ENST00000373758.4:c.105+10983T>G | ENSP00000362863.4:n.105+10983T>G |
| XM_011539501.1:c.105+10983T>G | XP_011537803.1:n.105+10983T>G |
| XM_011539501.2:c.105+10983T>G | XP_011537803.1:n.105+10983T>G |
| XM_017015896.1:c.105+10983T>G | XP_016871385.1:n.105+10983T>G |