Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397502G>C , CM000681.2:g.1397502G>C | GRCh38 |
| NC_000019.9:g.1397501G>C , CM000681.1:g.1397501G>C | GRCh37 |
| NC_000019.8:g.1348501G>C | NCBI36 |
| NG_008283.1:g.18619G>C | |
| NG_009785.1:g.9052C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.571-3C>G MANE Select | NP_000147.1:n.571-3C>G |
| ENST00000252288.8:c.571-3C>G MANE Select | ENSP00000252288.1:n.571-3C>G |
| NM_000156.5:c.571-3C>G | NP_000147.1:n.571-3C>G |
| ENST00000252288.6:c.571-3C>G | ENSP00000252288.1:n.571-3C>G |
| ENST00000640164.1:n.404-3C>G | |
| ENST00000640762.1:c.502-3C>G | ENSP00000492031.1:n.502-3C>G |