Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47619428C>A , CM000685.2:g.47619428C>A | GRCh38 |
| NC_000023.10:g.47478827C>A , CM000685.1:g.47478827C>A | GRCh37 |
| NC_000023.9:g.47363771C>A | NCBI36 |
| NG_008437.1:g.5430G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006950.3:c.301G>T MANE Select | NP_008881.2:p.Gly101Cys |
| ENST00000295987.13:c.301G>T MANE Select | ENSP00000295987.7:p.Gly101Cys |
| NM_133499.2:c.301G>T | NP_598006.1:p.Gly101Cys |
| ENST00000295987.11:c.301G>T | ENSP00000295987.7:p.Gly101Cys |
| ENST00000340666.4:c.301G>T | ENSP00000343206.4:p.Gly101Cys |
| ENST00000340666.5:c.301G>T | ENSP00000343206.4:p.Gly101Cys |