Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56930235T>C , CM000674.2:g.56930235T>C | GRCh38 |
| NC_000012.11:g.57324019T>C , CM000674.1:g.57324019T>C | GRCh37 |
| NC_000012.10:g.55610286T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_148897.3:c.551A>G MANE Select | NP_683695.1:p.Asp184Gly |
| ENST00000293502.2:c.551A>G MANE Select | ENSP00000293502.1:p.Asp184Gly |
| NM_148897.2:c.551A>G | NP_683695.1:p.Asp184Gly |
| ENST00000293502.1:c.551A>G | ENSP00000293502.1:p.Asp184Gly |