Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134498677A>G , CM000685.2:g.134498677A>G | GRCh38 |
| NC_000023.10:g.133632707A>G , CM000685.1:g.133632707A>G | GRCh37 |
| NC_000023.9:g.133460373A>G | NCBI36 |
| NG_012329.1:g.43533A>G | |
| NG_012329.2:g.43533A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.602A>G MANE Select | NP_000185.1:p.Asp201Gly |
| ENST00000298556.8:c.602A>G MANE Select | ENSP00000298556.7:p.Asp201Gly |
| NM_000194.2:c.602A>G | NP_000185.1:p.Asp201Gly |
| ENST00000298556.7:c.602A>G | ENSP00000298556.7:p.Asp201Gly |
| ENST00000475720.1:n.560A>G | |
| XM_011531328.1:c.620A>G | XP_011529630.1:p.Asp207Gly |