Linked Data
ClinVar Variation Id:
2486647
ClinVar RCV Id:
RCV003210609
dbSNP Id:
rs750645277
ExAC:
1:119575923 G / T
gnomAD v3:
1-119033300-G-T
gnomAD v4:
1-119033300-G-T
COSMIC:
COSM3688939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033300G>T , CM000663.2:g.119033300G>T | GRCh38 |
| NC_000001.10:g.119575923G>T , CM000663.1:g.119575923G>T | GRCh37 |
| NC_000001.9:g.119377446G>T | NCBI36 |
| NG_050658.1:g.112489C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.694C>A MANE Select | ENSP00000235521.4:p.Pro232Thr | |
| ENST00000235521.4:c.694C>A | ENSP00000235521.4:p.Pro232Thr | |
| ENST00000369426.9:c.*60C>A | ENSP00000358434.5:n.*60C>A | |
| ENST00000495746.5:n.618C>A | ||
| NM_015836.3:c.694C>A | NP_056651.1:p.Pro232Thr | |
| NM_201263.2:c.*60C>A | NP_957715.1:n.*60C>A | |
| XM_005270350.2:c.640C>A | XP_005270407.1:p.Pro214Thr | |
| XM_006710283.1:c.412C>A | XP_006710346.1:p.Pro138Thr | |
| XM_011540493.1:c.625C>A | XP_011538795.1:p.Pro209Thr | |
| XM_011540494.1:c.625C>A | XP_011538796.1:p.Pro209Thr | |
| XM_011540495.1:c.436C>A | XP_011538797.1:p.Pro146Thr | |
| XM_005270350.3:c.640C>A | XP_005270407.1:p.Pro214Thr | |
| XM_011540494.2:c.625C>A | XP_011538796.1:p.Pro209Thr | |
| XM_011540495.2:c.436C>A | XP_011538797.1:p.Pro146Thr | |
| XM_017000038.1:c.637C>A | XP_016855527.1:p.Pro213Thr | |
| XM_017000039.1:c.625C>A | XP_016855528.1:p.Pro209Thr | |
| XM_017000040.1:c.523C>A | XP_016855529.1:p.Pro175Thr | |
| XM_017000041.2:c.355C>A | XP_016855530.1:p.Pro119Thr | |
| XM_017000042.1:c.*29C>A | XP_016855531.1:n.*29C>A | |
| XM_024449826.1:c.625C>A | XP_024305594.1:p.Pro209Thr | |
| XM_024449860.1:c.412C>A | XP_024305628.1:p.Pro138Thr | |
| XM_024449871.1:c.412C>A | XP_024305639.1:p.Pro138Thr | |
| NM_001378226.1:c.625C>A | NP_001365155.1:p.Pro209Thr | |
| NM_001378227.1:c.625C>A | NP_001365156.1:p.Pro209Thr | |
| NM_001378228.1:c.523C>A | NP_001365157.1:p.Pro175Thr | |
| NM_001378229.1:c.436C>A | NP_001365158.1:p.Pro146Thr | |
| NM_001378230.1:c.412C>A | NP_001365159.1:p.Pro138Thr | |
| NM_001378231.1:c.*29C>A | NP_001365160.1:n.*29C>A | |
| NM_015836.4:c.694C>A MANE Select | NP_056651.1:p.Pro232Thr |