Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671046G>A , CM000670.2:g.86671046G>A | GRCh38 |
| NC_000008.10:g.87683274G>A , CM000670.1:g.87683274G>A | GRCh37 |
| NC_000008.9:g.87752390G>A | NCBI36 |
| NG_016980.1:g.77630C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.391C>T MANE Select | NP_061971.3:p.Gln131Ter |
| ENST00000320005.6:c.391C>T MANE Select | ENSP00000316605.5:p.Gln131Ter |
| NM_019098.4:c.391C>T | NP_061971.3:p.Gln131Ter |
| ENST00000320005.5:c.391C>T | ENSP00000316605.5:p.Gln131Ter |
| ENST00000680314.1:n.152C>T | |
| ENST00000681746.1:c.391C>T | ENSP00000505959.1:p.Gln131Ter |
| XM_011517138.1:c.-24C>T | XP_011515440.1:n.-24C>T |
| XM_011517138.2:c.-24C>T | XP_011515440.1:n.-24C>T |