Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19959292G>C , CM000670.2:g.19959292G>C | GRCh38 |
| NC_000008.10:g.19816803G>C , CM000670.1:g.19816803G>C | GRCh37 |
| NC_000008.9:g.19861083G>C | NCBI36 |
| NG_008855.1:g.25222G>C | |
| NG_008855.2:g.62576G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.1051G>C MANE Select | NP_000228.1:p.Gly351Arg |
| ENST00000650287.1:c.1051G>C MANE Select | ENSP00000497642.1:p.Gly351Arg |
| NM_000237.2:c.1051G>C | NP_000228.1:p.Gly351Arg |
| ENST00000311322.8:c.1051G>C | ENSP00000309757.6:p.Gly351Arg |
| ENST00000650478.1:c.80-1609G>C | ENSP00000497560.1:n.80-1609G>C |