Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145021C>A , CM000670.2:g.96145021C>A | GRCh38 |
| NC_000008.10:g.97157249C>A , CM000670.1:g.97157249C>A | GRCh37 |
| NC_000008.9:g.97226425C>A | NCBI36 |
| NG_008981.1:g.20772G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.910G>T MANE Select | ENSP00000287020.4:p.Gly304Cys | |
| ENST00000287020.6:c.910G>T | ENSP00000287020.4:p.Gly304Cys | |
| ENST00000620978.1:c.793+55G>T | ENSP00000480170.1:n.793+55G>T | |
| ENST00000621429.1:c.874+36G>T | ENSP00000483711.1:n.874+36G>T | |
| NM_001001557.2:c.910G>T | NP_001001557.1:p.Gly304Cys | |
| XM_011517030.1:c.511G>T | XP_011515332.1:p.Gly171Cys | |
| NM_001001557.3:c.910G>T | NP_001001557.1:p.Gly304Cys | |
| NM_001001557.4:c.910G>T MANE Select | NP_001001557.1:p.Gly304Cys |