Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8798991C>A , CM000685.2:g.8798991C>A | GRCh38 |
| NC_000023.10:g.8767032C>A , CM000685.1:g.8767032C>A | GRCh37 |
| NC_000023.9:g.8727032C>A | NCBI36 |
| NG_016564.1:g.7393G>T | |
| NG_016564.2:g.7393G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174951.3:c.195G>T MANE Select | NP_777611.1:p.Arg65Ser |
| ENST00000381003.7:c.195G>T MANE Select | ENSP00000370391.3:p.Arg65Ser |
| NM_001171186.1:c.195G>T | NP_001164657.1:p.Arg65Ser |
| ENST00000543214.1:c.195G>T | ENSP00000440163.1:p.Arg65Ser |
| XM_011545463.1:c.195G>T | XP_011543765.1:p.Arg65Ser |