Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145222A>C , CM000670.2:g.96145222A>C | GRCh38 |
| NC_000008.10:g.97157450A>C , CM000670.1:g.97157450A>C | GRCh37 |
| NC_000008.9:g.97226626A>C | NCBI36 |
| NG_008981.1:g.20571T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.709T>G MANE Select | ENSP00000287020.4:p.Trp237Gly | |
| ENST00000287020.6:c.709T>G | ENSP00000287020.4:p.Trp237Gly | |
| ENST00000620978.1:c.706+3T>G | ENSP00000480170.1:n.706+3T>G | |
| ENST00000621429.1:c.709T>G | ENSP00000483711.1:p.Trp237Gly | |
| NM_001001557.2:c.709T>G | NP_001001557.1:p.Trp237Gly | |
| XM_011517030.1:c.310T>G | XP_011515332.1:p.Trp104Gly | |
| NM_001001557.3:c.709T>G | NP_001001557.1:p.Trp237Gly | |
| NM_001001557.4:c.709T>G MANE Select | NP_001001557.1:p.Trp237Gly |