Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149944673T>C , CM000667.2:g.149944673T>C | GRCh38 |
| NC_000005.9:g.149324236T>C , CM000667.1:g.149324236T>C | GRCh37 |
| NC_000005.8:g.149304429T>C | NCBI36 |
| NG_009102.1:g.5121A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000440.3:c.1A>G MANE Select | NP_000431.2:p.Met1Val |
| ENST00000255266.10:c.1A>G MANE Select | ENSP00000255266.5:p.Met1Val |
| NM_000440.2:c.1A>G | NP_000431.2:p.Met1Val |
| ENST00000255266.9:c.1A>G | ENSP00000255266.5:p.Met1Val |
| ENST00000508173.5:n.121A>G | |
| ENST00000613228.1:c.1A>G | ENSP00000478060.1:p.Met1Val |
| ENST00000617647.4:c.1A>G | ENSP00000482774.1:p.Met1Val |
| XM_011537648.1:c.1A>G | XP_011535950.1:p.Met1Val |
| XM_011537649.1:c.-72-9955A>G | XP_011535951.1:n.-72-9955A>G |
| XM_017009572.2:c.1A>G | XP_016865061.1:p.Met1Val |