Linked Data
ClinVar Variation Id:
2724174
ClinVar RCV Id:
RCV003561617
MyVariant Identifiers:
chr1:g.119575759G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033136G>C , CM000663.2:g.119033136G>C | GRCh38 |
| NC_000001.10:g.119575759G>C , CM000663.1:g.119575759G>C | GRCh37 |
| NC_000001.9:g.119377282G>C | NCBI36 |
| NG_050658.1:g.112653C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.858C>G MANE Select | ENSP00000235521.4:p.Ser286= | |
| ENST00000235521.4:c.858C>G | ENSP00000235521.4:p.Ser286= | |
| ENST00000369426.9:c.*224C>G | ENSP00000358434.5:n.*224C>G | |
| NM_015836.3:c.858C>G | NP_056651.1:p.Ser286= | |
| NM_201263.2:c.*224C>G | NP_957715.1:n.*224C>G | |
| XM_005270350.2:c.804C>G | XP_005270407.1:p.Ser268= | |
| XM_006710283.1:c.576C>G | XP_006710346.1:p.Ser192= | |
| XM_011540493.1:c.789C>G | XP_011538795.1:p.Ser263= | |
| XM_011540494.1:c.789C>G | XP_011538796.1:p.Ser263= | |
| XM_011540495.1:c.600C>G | XP_011538797.1:p.Ser200= | |
| XM_005270350.3:c.804C>G | XP_005270407.1:p.Ser268= | |
| XM_011540494.2:c.789C>G | XP_011538796.1:p.Ser263= | |
| XM_011540495.2:c.600C>G | XP_011538797.1:p.Ser200= | |
| XM_017000038.1:c.801C>G | XP_016855527.1:p.Ser267= | |
| XM_017000039.1:c.789C>G | XP_016855528.1:p.Ser263= | |
| XM_017000040.1:c.687C>G | XP_016855529.1:p.Ser229= | |
| XM_017000041.2:c.519C>G | XP_016855530.1:p.Ser173= | |
| XM_017000042.1:c.*193C>G | XP_016855531.1:n.*193C>G | |
| XM_024449826.1:c.789C>G | XP_024305594.1:p.Ser263= | |
| XM_024449860.1:c.576C>G | XP_024305628.1:p.Ser192= | |
| XM_024449871.1:c.576C>G | XP_024305639.1:p.Ser192= | |
| NM_001378226.1:c.789C>G | NP_001365155.1:p.Ser263= | |
| NM_001378227.1:c.789C>G | NP_001365156.1:p.Ser263= | |
| NM_001378228.1:c.687C>G | NP_001365157.1:p.Ser229= | |
| NM_001378229.1:c.600C>G | NP_001365158.1:p.Ser200= | |
| NM_001378230.1:c.576C>G | NP_001365159.1:p.Ser192= | |
| NM_001378231.1:c.*193C>G | NP_001365160.1:n.*193C>G | |
| NM_015836.4:c.858C>G MANE Select | NP_056651.1:p.Ser286= |