Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71576415T>C , CM000678.2:g.71576415T>C | GRCh38 |
| NC_000016.9:g.71610318T>C , CM000678.1:g.71610318T>C | GRCh37 |
| NC_000016.8:g.70167819T>C | NCBI36 |
| NG_008235.1:g.5681A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.1A>G MANE Select | NP_000344.1:p.Met1Val |
| ENST00000355962.5:c.1A>G MANE Select | ENSP00000348234.4:p.Met1Val |
| NM_000353.2:c.1A>G | NP_000344.1:p.Met1Val |
| ENST00000355962.4:c.1A>G | ENSP00000348234.4:p.Met1Val |
| ENST00000566010.1:n.97A>G | |
| ENST00000566094.5:n.97A>G |