Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110915765C>G , CM000674.2:g.110915765C>G | GRCh38 |
| NC_000012.11:g.111353569C>G , CM000674.1:g.111353569C>G | GRCh37 |
| NC_000012.10:g.109837952C>G | NCBI36 |
| NG_007554.1:g.9813G>C , LRG_393:g.9813G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.119G>C MANE Select | NP_000423.2:p.Arg40Thr |
| ENST00000228841.15:c.119G>C MANE Select | ENSP00000228841.8:p.Arg40Thr |
| NM_000432.3:c.119G>C , LRG_393t1:c.119G>C | NP_000423.2:p.Arg40Thr |
| ENST00000228841.12:c.119G>C | ENSP00000228841.7:p.Arg40Thr |
| ENST00000548438.1:c.94-1441G>C | ENSP00000447154.1:n.94-1441G>C |
| ENST00000663220.1:c.62G>C | ENSP00000499568.1:p.Arg21Thr |