Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45327293A>C , CM000663.2:g.45327293A>C | GRCh38 |
| NC_000001.10:g.45792965A>C , CM000663.1:g.45792965A>C | GRCh37 |
| NC_000001.9:g.45565552A>C | NCBI36 |
| NG_008189.1:g.18178T>G , LRG_220:g.18178T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032756.4:c.145A>C MANE Select | NP_116145.1:p.Ser49Arg |
| ENST00000334815.6:c.145A>C MANE Select | ENSP00000335060.3:p.Ser49Arg |
| NM_032756.2:c.145A>C | NP_116145.1:p.Ser49Arg |
| NM_032756.3:c.145A>C | NP_116145.1:p.Ser49Arg |
| ENST00000334815.4:c.145A>C | ENSP00000335060.3:p.Ser49Arg |
| ENST00000334815.5:c.145A>C | ENSP00000335060.3:p.Ser49Arg |