Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110181353C>T , CM000675.2:g.110181353C>T | GRCh38 |
| NC_000013.10:g.110833700C>T , CM000675.1:g.110833700C>T | GRCh37 |
| NC_000013.9:g.109631701C>T | NCBI36 |
| NG_011544.2:g.130797G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.2132G>A MANE Select | NP_001836.3:p.Gly711Glu |
| ENST00000375820.10:c.2132G>A MANE Select | ENSP00000364979.4:p.Gly711Glu |
| NM_001845.5:c.2132G>A | NP_001836.3:p.Gly711Glu |
| ENST00000375820.8:c.2132G>A | ENSP00000364979.4:p.Gly711Glu |
| ENST00000649738.1:n.2262G>A | |
| XM_011521048.1:c.1940G>A | XP_011519350.1:p.Gly647Glu |
| XM_011521048.2:c.1940G>A | XP_011519350.1:p.Gly647Glu |