Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528275C>G , CM000685.2:g.48528275C>G | GRCh38 |
| NC_000023.10:g.48386663C>G , CM000685.1:g.48386663C>G | GRCh37 |
| NC_000023.9:g.48271607C>G | NCBI36 |
| NG_007452.1:g.11500C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.511C>G MANE Select | ENSP00000417052.1:p.Arg171Gly | |
| ENST00000651615.1:c.469+990C>G | ENSP00000498524.1:n.469+990C>G | |
| ENST00000276096.10:n.469C>G | ||
| ENST00000495186.5:c.511C>G | ENSP00000417052.1:p.Arg171Gly | |
| ENST00000498425.1:n.632C>G | ||
| NM_006579.2:c.511C>G | NP_006570.1:p.Arg171Gly | |
| NM_006579.3:c.511C>G MANE Select | NP_006570.1:p.Arg171Gly |