Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100667293C>A , CM000685.2:g.100667293C>A | GRCh38 |
| NC_000023.10:g.99922290C>A , CM000685.1:g.99922290C>A | GRCh37 |
| NC_000023.9:g.99808946C>A | NCBI36 |
| NG_021337.1:g.28128C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.981C>A MANE Select | ENSP00000362095.3:p.Asn327Lys | |
| ENST00000638920.1:n.984C>A | ||
| ENST00000640282.1:c.27C>A | ENSP00000491188.1:p.Asn9Lys | |
| ENST00000677630.1:n.915C>A | ||
| ENST00000679590.1:n.1014C>A | ||
| ENST00000373004.3:c.981C>A | ENSP00000362095.3:p.Asn327Lys | |
| NM_014467.2:c.981C>A | NP_055282.1:p.Asn327Lys | |
| XM_005262121.2:c.981C>A | XP_005262178.1:p.Asn327Lys | |
| NM_014467.3:c.981C>A MANE Select | NP_055282.1:p.Asn327Lys |