Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152350656G>T , CM000663.2:g.152350656G>T | GRCh38 |
| NC_000001.10:g.152323132G>T , CM000663.1:g.152323132G>T | GRCh37 |
| NC_000001.9:g.150589756G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001014342.3:c.7130C>A MANE Select | NP_001014364.1:p.Ser2377Ter |
| ENST00000388718.5:c.7130C>A MANE Select | ENSP00000373370.4:p.Ser2377Ter |
| NM_001014342.2:c.7130C>A | NP_001014364.1:p.Ser2377Ter |
| NR_103778.1:n.1406+9446G>T | |
| NR_103779.1:n.151+9446G>T | |
| XM_011509531.1:c.6674C>A | XP_011507833.1:p.Ser2225Ter |
| XM_011509531.2:c.6674C>A | XP_011507833.1:p.Ser2225Ter |