Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775453G>A , CM000672.2:g.94775453G>A | GRCh38 |
| NC_000010.10:g.96535210G>A , CM000672.1:g.96535210G>A | GRCh37 |
| NC_000010.9:g.96525200G>A | NCBI36 |
| NG_008384.2:g.17748G>A | |
| NG_008384.3:g.17773G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.395G>A MANE Select | NP_000760.1:p.Arg132Gln |
| ENST00000371321.9:c.395G>A MANE Select | ENSP00000360372.3:p.Arg132Gln |
| NM_000769.2:c.395G>A | NP_000760.1:p.Arg132Gln |
| ENST00000371321.7:c.395G>A | ENSP00000360372.3:p.Arg132Gln |
| ENST00000464755.1:c.1158G>A | ENSP00000483243.1:n.1158G>A |
| ENST00000480405.2:c.395G>A | ENSP00000483847.1:p.Arg132Gln |
| ENST00000645461.1:n.1448G>A |