Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828042G>T , CM000667.2:g.147828042G>T | GRCh38 |
| NC_000005.9:g.147207605G>T , CM000667.1:g.147207605G>T | GRCh37 |
| NC_000005.8:g.147187798G>T | NCBI36 |
| NG_008356.2:g.16190C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.174C>A MANE Select | NP_001366539.1:p.Cys58Ter |
| ENST00000296695.10:c.174C>A MANE Select | ENSP00000296695.5:p.Cys58Ter |
| NM_001354966.1:c.174C>A | NP_001341895.1:p.Cys58Ter |
| NM_001354966.2:c.174C>A | NP_001341895.1:p.Cys58Ter |
| NM_003122.4:c.174C>A | NP_003113.2:p.Cys58Ter |
| NM_003122.5:c.174C>A | NP_003113.2:p.Cys58Ter |
| ENST00000296695.9:c.174C>A | ENSP00000296695.5:p.Cys58Ter |
| ENST00000505722.1:n.89C>A | |
| ENST00000510027.2:c.174C>A | ENSP00000427376.1:p.Cys58Ter |