Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849282C>G , CM000681.2:g.35849282C>G | GRCh38 |
| NC_000019.9:g.36340184C>G , CM000681.1:g.36340184C>G | GRCh37 |
| NC_000019.8:g.41032024C>G | NCBI36 |
| NG_013356.2:g.25006G>C , LRG_693:g.25006G>C | |
| NG_051206.1:g.2648C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.794G>C MANE Select | NP_004637.1:p.Cys265Ser |
| ENST00000378910.10:c.794G>C MANE Select | ENSP00000368190.4:p.Cys265Ser |
| NM_004646.3:c.794G>C , LRG_693t1:c.794G>C | NP_004637.1:p.Cys265Ser |
| ENST00000353632.6:c.794G>C | ENSP00000343634.5:p.Cys265Ser |
| ENST00000378910.9:c.794G>C | ENSP00000368190.4:p.Cys265Ser |