Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439674A>T , CM000666.2:g.177439674A>T | GRCh38 |
| NC_000004.11:g.178360828A>T , CM000666.1:g.178360828A>T | GRCh37 |
| NC_000004.10:g.178597822A>T | NCBI36 |
| NG_011845.2:g.7830T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.296T>A MANE Select | ENSP00000264595.2:p.Val99Glu | |
| ENST00000264595.6:c.296T>A | ENSP00000264595.2:p.Val99Glu | |
| ENST00000506853.5:n.330T>A | ||
| ENST00000510955.5:n.315+599T>A | ||
| NM_000027.3:c.296T>A | NP_000018.2:p.Val99Glu | |
| NM_001171988.1:c.296T>A | NP_001165459.1:p.Val99Glu | |
| NR_033655.1:n.424T>A | ||
| XM_006714123.2:c.296T>A | XP_006714186.1:p.Val99Glu | |
| XR_001741155.2:n.390T>A | ||
| NM_000027.4:c.296T>A MANE Select | NP_000018.2:p.Val99Glu | |
| NM_001171988.2:c.296T>A | NP_001165459.1:p.Val99Glu | |
| NR_033655.2:n.358T>A |