Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160120984G>A , CM000663.2:g.160120984G>A | GRCh38 |
| NC_000001.10:g.160090774G>A , CM000663.1:g.160090774G>A | GRCh37 |
| NC_000001.9:g.158357398G>A | NCBI36 |
| NG_008014.1:g.10227G>A , LRG_6:g.10227G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.91G>A MANE Select | NP_000693.1:p.Asp31Asn |
| ENST00000361216.8:c.91G>A MANE Select | ENSP00000354490.3:p.Asp31Asn |
| NM_000702.3:c.91G>A | NP_000693.1:p.Asp31Asn |
| ENST00000361216.7:c.91G>A | ENSP00000354490.3:p.Asp31Asn |
| ENST00000392233.7:c.91G>A | ENSP00000376066.3:p.Asp31Asn |
| ENST00000472488.5:n.194G>A | |
| ENST00000478587.1:n.190G>A |