Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951129G>C , CM000674.2:g.49951129G>C | GRCh38 |
| NC_000012.11:g.50344912G>C , CM000674.1:g.50344912G>C | GRCh37 |
| NC_000012.10:g.48631179G>C | NCBI36 |
| NG_008913.1:g.5389G>C , LRG_717:g.5389G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.299G>C MANE Select | NP_000477.1:p.Gly100Ala |
| ENST00000199280.4:c.299G>C MANE Select | ENSP00000199280.3:p.Gly100Ala |
| NM_000486.5:c.299G>C , LRG_717t1:c.299G>C | NP_000477.1:p.Gly100Ala |
| ENST00000199280.3:c.299G>C | ENSP00000199280.3:p.Gly100Ala |
| ENST00000550862.1:c.299G>C | ENSP00000450022.1:p.Gly100Ala |
| ENST00000551526.5:c.299G>C | ENSP00000447148.1:p.Gly100Ala |