Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672068T>C , CM000685.2:g.18672068T>C | GRCh38 |
| NC_000023.10:g.18690188T>C , CM000685.1:g.18690188T>C | GRCh37 |
| NC_000023.9:g.18600109T>C | NCBI36 |
| NG_008659.3:g.10381A>G , LRG_702:g.10381A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.1A>G MANE Select | NP_000321.1:p.Met1Val |
| ENST00000379984.4:c.1A>G MANE Select | ENSP00000369320.3:p.Met1Val |
| NM_000330.3:c.1A>G , LRG_702t1:c.1A>G | NP_000321.1:p.Met1Val |
| ENST00000379984.3:c.1A>G | ENSP00000369320.3:p.Met1Val |