Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12321860G>A , CM000663.2:g.12321860G>A | GRCh38 |
| NC_000001.10:g.12381917G>A , CM000663.1:g.12381917G>A | GRCh37 |
| NC_000001.9:g.12304504G>A | NCBI36 |
| NG_056877.1:g.96822G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.7600G>A MANE Select | NP_056193.2:p.Asp2534Asn |
| ENST00000620676.6:c.7600G>A MANE Select | ENSP00000478104.1:p.Asp2534Asn |
| NM_015378.3:c.7600G>A | NP_056193.2:p.Asp2534Asn |
| NM_018156.3:c.7600G>A | NP_060626.2:p.Asp2534Asn |
| NM_018156.4:c.7600G>A | NP_060626.2:p.Asp2534Asn |
| ENST00000011700.10:c.4068G>A | |
| ENST00000460333.5:n.1488G>A | |
| ENST00000487188.1:n.878G>A | |
| ENST00000613099.4:c.7600G>A | ENSP00000482233.1:p.Asp2534Asn |
| ENST00000620676.4:c.7600G>A | ENSP00000478104.1:p.Asp2534Asn |
| ENST00000646917.1:c.2268G>A |