Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114466C>A , CM000667.2:g.140114466C>A | GRCh38 |
| NC_000005.9:g.139494051C>A , CM000667.1:g.139494051C>A | GRCh37 |
| NC_000005.8:g.139474235C>A | NCBI36 |
| NG_041813.1:g.5344C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.285C>A MANE Select | ENSP00000332706.3:p.Gly95= | |
| ENST00000505703.2:c.285C>A | ENSP00000498560.1:p.Gly95= | |
| ENST00000651386.1:c.285C>A | ENSP00000499133.1:p.Gly95= | |
| ENST00000331327.4:c.285C>A | ENSP00000332706.3:p.Gly95= | |
| NM_005859.4:c.285C>A | NP_005850.1:p.Gly95= | |
| NM_005859.5:c.285C>A MANE Select | NP_005850.1:p.Gly95= |