Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134460312A>G , CM000685.2:g.134460312A>G | GRCh38 |
| NC_000023.10:g.133594342A>G , CM000685.1:g.133594342A>G | GRCh37 |
| NC_000023.9:g.133422008A>G | NCBI36 |
| NG_012329.1:g.5168A>G | |
| NG_012329.2:g.5168A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.1A>G MANE Select | NP_000185.1:p.Met1Val |
| ENST00000298556.8:c.1A>G MANE Select | ENSP00000298556.7:p.Met1Val |
| NM_000194.2:c.1A>G | NP_000185.1:p.Met1Val |
| ENST00000298556.7:c.1A>G | ENSP00000298556.7:p.Met1Val |
| XM_011531328.1:c.45+6413A>G | XP_011529630.1:n.45+6413A>G |