Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45327295C>A , CM000663.2:g.45327295C>A | GRCh38 |
| NC_000001.10:g.45792967C>A , CM000663.1:g.45792967C>A | GRCh37 |
| NC_000001.9:g.45565554C>A | NCBI36 |
| NG_008189.1:g.18176G>T , LRG_220:g.18176G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032756.4:c.147C>A MANE Select | NP_116145.1:p.Ser49Arg |
| ENST00000334815.6:c.147C>A MANE Select | ENSP00000335060.3:p.Ser49Arg |
| NM_032756.2:c.147C>A | NP_116145.1:p.Ser49Arg |
| NM_032756.3:c.147C>A | NP_116145.1:p.Ser49Arg |
| ENST00000334815.4:c.147C>A | ENSP00000335060.3:p.Ser49Arg |
| ENST00000334815.5:c.147C>A | ENSP00000335060.3:p.Ser49Arg |