Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442373C>A , CM000666.2:g.177442373C>A | GRCh38 |
| NC_000004.11:g.178363527C>A , CM000666.1:g.178363527C>A | GRCh37 |
| NC_000004.10:g.178600521C>A | NCBI36 |
| NG_011845.2:g.5131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.3G>T MANE Select | ENSP00000264595.2:p.Met1Ile | |
| ENST00000264595.6:c.3G>T | ENSP00000264595.2:p.Met1Ile | |
| ENST00000506853.5:n.37G>T | ||
| ENST00000510955.5:n.37G>T | ||
| ENST00000511231.1:n.37G>T | ||
| NM_000027.3:c.3G>T | NP_000018.2:p.Met1Ile | |
| NM_001171988.1:c.3G>T | NP_001165459.1:p.Met1Ile | |
| NR_033655.1:n.131G>T | ||
| XM_006714123.2:c.3G>T | XP_006714186.1:p.Met1Ile | |
| XR_001741155.2:n.97G>T | ||
| NM_000027.4:c.3G>T MANE Select | NP_000018.2:p.Met1Ile | |
| NM_001171988.2:c.3G>T | NP_001165459.1:p.Met1Ile | |
| NR_033655.2:n.65G>T |