Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572829T>C , CM000685.2:g.47572829T>C | GRCh38 |
| NC_000023.10:g.47432228T>C , CM000685.1:g.47432228T>C | GRCh37 |
| NC_000023.9:g.47317172T>C | NCBI36 |
| NG_008437.1:g.52029A>G | |
| NG_016339.1:g.16713T>C | |
| NG_016339.2:g.16713T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*35A>G MANE Select | ENSP00000295987.7:n.*35A>G | |
| ENST00000340666.5:c.*105A>G | ENSP00000343206.4:n.*105A>G | |
| ENST00000640721.1:c.203A>G | ENSP00000492857.1:n.203A>G | |
| ENST00000295987.11:c.*35A>G | ENSP00000295987.7:n.*35A>G | |
| ENST00000340666.4:c.*105A>G | ENSP00000343206.4:n.*105A>G | |
| NM_006950.3:c.*35A>G MANE Select | NP_008881.2:n.*35A>G | |
| NM_133499.2:c.*105A>G | NP_598006.1:n.*105A>G |