Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12277831G>A , CM000663.2:g.12277831G>A | GRCh38 |
| NC_000001.10:g.12337888G>A , CM000663.1:g.12337888G>A | GRCh37 |
| NC_000001.9:g.12260475G>A | NCBI36 |
| NG_056877.1:g.52793G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.4243G>A MANE Select | NP_056193.2:p.Asp1415Asn |
| ENST00000620676.6:c.4243G>A MANE Select | ENSP00000478104.1:p.Asp1415Asn |
| NM_015378.3:c.4243G>A | NP_056193.2:p.Asp1415Asn |
| NM_018156.3:c.4243G>A | NP_060626.2:p.Asp1415Asn |
| NM_018156.4:c.4243G>A | NP_060626.2:p.Asp1415Asn |
| ENST00000011700.10:c.711G>A | |
| ENST00000613099.4:c.4243G>A | ENSP00000482233.1:p.Asp1415Asn |
| ENST00000620676.4:c.4243G>A | ENSP00000478104.1:p.Asp1415Asn |