Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138115748C>T , CM000667.2:g.138115748C>T | GRCh38 |
| NC_000005.9:g.137451437C>T , CM000667.1:g.137451437C>T | GRCh37 |
| NC_000005.8:g.137479336C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003551.3:c.572G>A MANE Select | NP_003542.1:p.Trp191Ter |
| ENST00000265191.4:c.572G>A MANE Select | ENSP00000265191.2:p.Trp191Ter |
| NM_003551.2:c.572G>A | NP_003542.1:p.Trp191Ter |
| ENST00000265191.3:c.572G>A | ENSP00000265191.2:p.Trp191Ter |
| ENST00000506657.1:n.301G>A | |
| ENST00000514481.1:n.157G>A | |
| XM_006714716.2:c.*3G>A | XP_006714779.1:n.*3G>A |
| XM_017009945.2:c.*573G>A | XP_016865434.1:n.*573G>A |
| XM_024446227.1:c.*573G>A | XP_024301995.1:n.*573G>A |
| XM_024446228.1:c.*3G>A | XP_024301996.1:n.*3G>A |