Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194538C>G , CM000666.2:g.186194538C>G | GRCh38 |
| NC_000004.11:g.187115692C>G , CM000666.1:g.187115692C>G | GRCh37 |
| NC_000004.10:g.187352686C>G | NCBI36 |
| NG_007965.1:g.8019C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.253C>G MANE Select | NP_997235.3:p.Arg85Gly |
| ENST00000378802.5:c.253C>G MANE Select | ENSP00000368079.4:p.Arg85Gly |
| NM_207352.3:c.253C>G | NP_997235.3:p.Arg85Gly |
| ENST00000378802.4:c.253C>G | ENSP00000368079.4:p.Arg85Gly |
| XM_005262935.2:c.253C>G | XP_005262992.1:p.Arg85Gly |
| XM_005262935.4:c.253C>G | XP_005262992.1:p.Arg85Gly |
| XM_006714184.2:c.-58C>G | XP_006714247.1:n.-58C>G |
| XM_017008037.1:c.-58C>G | XP_016863526.1:n.-58C>G |