Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17547373A>G , CM000673.2:g.17547373A>G | GRCh38 |
| NC_000011.9:g.17568920A>G , CM000673.1:g.17568920A>G | GRCh37 |
| NC_000011.8:g.17525496A>G | NCBI36 |
| NG_011883.1:g.2044T>C | |
| NG_033191.1:g.5001A>G | |
| NG_011883.2:g.2044T>C | |
| NG_033191.2:g.5001A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001292063.2:c.1A>G MANE Select | NP_001278992.1:p.Met1Val |
| ENST00000399397.6:c.1A>G MANE Select | ENSP00000382329.2:p.Met1Val |
| NM_001277269.1:c.1A>G | NP_001264198.1:p.Met1Val |
| NM_001277269.2:c.1A>G | NP_001264198.1:p.Met1Val |
| NM_001292063.1:c.1A>G | NP_001278992.1:p.Met1Val |
| ENST00000399391.6:c.1A>G | ENSP00000382323.2:p.Met1Val |
| ENST00000399391.7:c.1A>G | ENSP00000382323.2:p.Met1Val |
| ENST00000399397.5:c.1A>G | ENSP00000382329.2:p.Met1Val |