Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88804003G>C , CM000678.2:g.88804003G>C | GRCh38 |
| NC_000016.9:g.88870411G>C , CM000678.1:g.88870411G>C | GRCh37 |
| NC_000016.8:g.87397912G>C | NCBI36 |
| NG_028266.1:g.5226G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.172G>C MANE Select | ENSP00000301019.4:p.Gly58Arg | |
| ENST00000301019.8:c.172G>C | ENSP00000301019.4:p.Gly58Arg | |
| NM_030928.3:c.172G>C | NP_112190.2:p.Gly58Arg | |
| NM_030928.4:c.172G>C MANE Select | NP_112190.2:p.Gly58Arg |