Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306731C>G , CM000663.2:g.2306731C>G | GRCh38 |
| NC_000001.10:g.2238170C>G , CM000663.1:g.2238170C>G | GRCh37 |
| NC_000001.9:g.2228030C>G | NCBI36 |
| NG_013084.1:g.83037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378536.5:c.2153C>G MANE Select | ENSP00000367797.4:p.Ala718Gly | |
| ENST00000378536.4:c.2153C>G | ENSP00000367797.4:p.Ala718Gly | |
| NM_003036.3:c.2153C>G | NP_003027.1:p.Ala718Gly | |
| XM_005244775.2:c.2159C>G | XP_005244832.1:p.Ala720Gly | |
| XM_005244776.3:c.1289C>G | XP_005244833.1:p.Ala430Gly | |
| XM_005244775.3:c.2159C>G | XP_005244832.1:p.Ala720Gly | |
| XM_005244776.4:c.1289C>G | XP_005244833.1:p.Ala430Gly | |
| XM_017002128.1:c.1667C>G | XP_016857617.1:p.Ala556Gly | |
| NM_003036.4:c.2153C>G MANE Select | NP_003027.1:p.Ala718Gly |