Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587286G>C , CM000681.2:g.48587286G>C | GRCh38 |
| NC_000019.9:g.49090543G>C , CM000681.1:g.49090543G>C | GRCh37 |
| NC_000019.8:g.53782355G>C | NCBI36 |
| NG_029063.1:g.40115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.272G>C MANE Select | ENSP00000201586.2:p.Trp91Ser | |
| ENST00000201586.6:c.272G>C | ENSP00000201586.1:p.Trp91Ser | |
| ENST00000323090.4:c.227G>C | ENSP00000312880.3:p.Trp76Ser | |
| NM_004605.2:c.227G>C | NP_004596.2:p.Trp76Ser | |
| NM_177973.1:c.272G>C | NP_814444.1:p.Trp91Ser | |
| NM_177973.2:c.272G>C MANE Select | NP_814444.1:p.Trp91Ser |