Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130946G>A , CM000665.2:g.14130946G>A | GRCh38 |
| NC_000003.11:g.14172446G>A , CM000665.1:g.14172446G>A | GRCh37 |
| NC_000003.10:g.14147447G>A | NCBI36 |
| NG_008975.1:g.11007G>A , LRG_435:g.11007G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.287G>A MANE Select | NP_077310.1:p.Arg96Gln |
| ENST00000306077.5:c.287G>A MANE Select | ENSP00000303992.5:p.Arg96Gln |
| NM_024334.2:c.287G>A , LRG_435t1:c.287G>A | NP_077310.1:p.Arg96Gln |
| ENST00000306077.4:c.287G>A | ENSP00000303992.4:p.Arg96Gln |
| ENST00000432444.1:c.*317G>A | ENSP00000395617.1:n.*317G>A |
| ENST00000432444.2:c.*317G>A | ENSP00000395617.1:n.*317G>A |
| XM_011534109.1:c.182G>A | XP_011532411.1:p.Arg61Gln |
| XM_017007176.2:c.182G>A | XP_016862665.1:p.Arg61Gln |