Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233318T>C , CM000667.2:g.55233318T>C | GRCh38 |
| NC_000005.9:g.54529146T>C , CM000667.1:g.54529146T>C | GRCh37 |
| NC_000005.8:g.54564903T>C | NCBI36 |
| NG_034201.1:g.5400A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021147.5:c.206A>G MANE Select | NP_066970.3:p.Asp69Gly |
| ENST00000282572.5:c.206A>G MANE Select | ENSP00000282572.4:p.Asp69Gly |
| NM_021147.4:c.206A>G | NP_066970.3:p.Asp69Gly |
| NR_125346.1:n.400A>G | |
| NR_125346.2:n.291A>G | |
| NR_125347.1:n.400A>G | |
| NR_125347.2:n.291A>G | |
| ENST00000282572.4:c.206A>G | ENSP00000282572.4:p.Asp69Gly |
| ENST00000501463.2:c.206A>G | ENSP00000422485.1:p.Asp69Gly |