Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253210G>A , CM000677.2:g.38253210G>A | GRCh38 |
| NC_000015.9:g.38545411G>A , CM000677.1:g.38545411G>A | GRCh37 |
| NC_000015.8:g.36332703G>A | NCBI36 |
| NG_008980.1:g.5360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.25G>A MANE Select | ENSP00000299084.4:p.Asp9Asn | |
| ENST00000299084.8:c.25G>A | ENSP00000299084.4:p.Asp9Asn | |
| ENST00000561205.1:n.363G>A | ||
| ENST00000561317.1:c.-103G>A | ENSP00000453680.1:n.-103G>A | |
| NM_152594.2:c.25G>A | NP_689807.1:p.Asp9Asn | |
| XM_005254202.2:c.25G>A | XP_005254259.1:p.Asp9Asn | |
| XM_005254203.3:c.-23G>A | XP_005254260.1:n.-23G>A | |
| XM_005254202.3:c.25G>A | XP_005254259.1:p.Asp9Asn | |
| XR_001751484.1:n.87+357C>T | ||
| NM_152594.3:c.25G>A MANE Select | NP_689807.1:p.Asp9Asn |