Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29488961G>A , CM000684.2:g.29488961G>A | GRCh38 |
| NC_000022.10:g.29884950G>A , CM000684.1:g.29884950G>A | GRCh37 |
| NC_000022.9:g.28214950G>A | NCBI36 |
| NG_008404.1:g.13770G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.1321G>A MANE Select | NP_066554.2:p.Glu441Lys |
| ENST00000310624.7:c.1321G>A MANE Select | ENSP00000311997.6:p.Glu441Lys |
| NM_021076.3:c.1321G>A | NP_066554.2:p.Glu441Lys |
| ENST00000310624.6:c.1321G>A | ENSP00000311997.6:p.Glu441Lys |
| XM_011530200.1:c.1321G>A | XP_011528502.1:p.Glu441Lys |
| XM_011530200.2:c.1321G>A | XP_011528502.1:p.Glu441Lys |