Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45295713A>G , CM000684.2:g.45295713A>G | GRCh38 |
| NC_000022.10:g.45691594A>G , CM000684.1:g.45691594A>G | GRCh37 |
| NC_000022.9:g.44070258A>G | NCBI36 |
| NG_016203.1:g.15727A>G | |
| NG_016203.2:g.15727A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006953.4:c.858A>G MANE Select | NP_008884.1:p.Gln286= |
| ENST00000216211.9:c.858A>G MANE Select | ENSP00000216211.4:p.Gln286= |
| NM_001167574.1:c.495A>G | NP_001161046.1:p.Gln165= |
| NM_001167574.2:c.495A>G | NP_001161046.1:p.Gln165= |
| NM_006953.3:c.858A>G | NP_008884.1:p.Gln286= |
| ENST00000216211.8:c.858A>G | ENSP00000216211.4:p.Gln286= |
| ENST00000396082.2:c.495A>G | ENSP00000379391.2:p.Gln165= |
| XM_011530364.1:c.864A>G | XP_011528666.1:p.Gln288= |
| XM_011530365.1:c.501A>G | XP_011528667.1:p.Gln167= |