Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212134C= , CM000670.2:g.23212134C= | GRCh38 |
| NC_000008.10:g.23069647C= , CM000670.1:g.23069647C= | GRCh37 |
| NC_000008.9:g.23125592C= | NCBI36 |
| NG_032107.1:g.18034G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.385G= MANE Select | ENSP00000221132.3:p.Gly129= | |
| ENST00000221132.7:c.385G= | ENSP00000221132.3:p.Gly129= | |
| ENST00000524158.5:c.-222G= | ENSP00000428884.1:n.-222G= | |
| ENST00000613472.1:c.32-9475G= | ENSP00000480778.1:n.32-9475G= | |
| NM_003844.3:c.385G= | NP_003835.3:p.Gly129= | |
| NM_003844.4:c.385G= MANE Select | NP_003835.3:p.Gly129= |