Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228007215C>G , CM000663.2:g.228007215C>G | GRCh38 |
| NC_000001.10:g.228194916C>G , CM000663.1:g.228194916C>G | GRCh37 |
| NC_000001.9:g.226261539C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033131.4:c.71+16C>G MANE Select | NP_149122.1:n.71+16C>G |
| ENST00000284523.2:c.71+16C>G MANE Select | ENSP00000284523.1:n.71+16C>G |
| NM_033131.3:c.71+16C>G | NP_149122.1:n.71+16C>G |
| ENST00000284523.1:c.71+16C>G | ENSP00000284523.1:n.71+16C>G |
| XM_011544319.1:c.71+16C>G | XP_011542621.1:n.71+16C>G |
| XM_011544319.3:c.71+16C>G | XP_011542621.1:n.71+16C>G |
| XM_011544320.1:c.71+16C>G | XP_011542622.1:n.71+16C>G |