Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866784T>C , CM000679.2:g.40866784T>C | GRCh38 |
| NC_000017.10:g.39023036T>C , CM000679.1:g.39023036T>C | GRCh37 |
| NC_000017.9:g.36276562T>C | NCBI36 |
| NG_008077.1:g.5427A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000223.4:c.403A>G MANE Select | NP_000214.1:p.Arg135Gly |
| ENST00000251643.5:c.403A>G MANE Select | ENSP00000251643.4:p.Arg135Gly |
| NM_000223.3:c.403A>G | NP_000214.1:p.Arg135Gly |
| ENST00000251643.4:c.403A>G | ENSP00000251643.4:p.Arg135Gly |
| ENST00000647902.1:c.295A>G | ENSP00000497770.1:p.Arg99Gly |
| XR_934754.1:n.1500+15924T>C | |
| XR_934754.2:n.2008+15924T>C |