Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.26050963G>T , CM000675.2:g.26050963G>T | GRCh38 |
| NC_000013.10:g.26625101G>T , CM000675.1:g.26625101G>T | GRCh37 |
| NC_000013.9:g.25523101G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007538.2:c.13C>A MANE Select | NP_001007539.1:p.Arg5Ser |
| ENST00000319420.4:c.13C>A MANE Select | ENSP00000313079.3:p.Arg5Ser |
| NM_001007538.1:c.13C>A | NP_001007539.1:p.Arg5Ser |
| ENST00000319420.3:c.13C>A | ENSP00000313079.2:p.Arg5Ser |
| XM_011535071.1:c.31+1313C>A | XP_011533373.1:n.31+1313C>A |
| XM_011535072.1:c.31+1313C>A | XP_011533374.1:n.31+1313C>A |
| XM_011535073.1:c.31+1313C>A | XP_011533375.1:n.31+1313C>A |