Linked Data
ClinVar Variation Id:
742649
ClinVar RCV Id:
RCV001444893
dbSNP Id:
rs199772588
ExAC:
2:98355865 C / T
gnomAD v2:
2-98355865-C-T
gnomAD v3:
2-97739402-C-T
gnomAD v4:
2-97739402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97739402C>T , CM000664.2:g.97739402C>T | GRCh38 |
| NC_000002.11:g.98355865C>T , CM000664.1:g.98355865C>T | GRCh37 |
| NC_000002.10:g.97722297C>T | NCBI36 |
| NG_007727.1:g.30835C>T , LRG_126:g.30835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.1764C>T | ENSP00000513759.1:p.Thr588= | |
| ENST00000698509.1:n.1904C>T | ||
| ENST00000264972.10:c.1764C>T MANE Select | ENSP00000264972.5:p.Thr588= | |
| ENST00000264972.9:c.1764C>T | ENSP00000264972.5:p.Thr588= | |
| ENST00000451498.2:c.843C>T | ENSP00000400475.2:p.Thr281= | |
| ENST00000463643.5:n.1625C>T | ||
| ENST00000487283.5:n.2816C>T | ||
| NM_001079.3:c.1764C>T , LRG_126t1:c.1764C>T | NP_001070.2:p.Thr588= | |
| NM_207519.1:c.843C>T | NP_997402.1:p.Thr281= | |
| XM_005264015.3:c.1746C>T | XP_005264072.1:p.Thr582= | |
| XM_011511783.1:c.1736+1295C>T | XP_011510085.1:n.1736+1295C>T | |
| XR_923018.1:n.1938+1295C>T | ||
| XR_923019.1:n.1938+1295C>T | ||
| XR_923020.1:n.2175C>T | ||
| XM_017004867.1:c.2133C>T | XP_016860356.1:p.Thr711= | |
| XM_017004868.1:c.2115C>T | XP_016860357.1:p.Thr705= | |
| XM_017004869.1:c.2105+1295C>T | XP_016860358.1:n.2105+1295C>T | |
| XR_001738925.1:n.3344+1295C>T | ||
| XR_001738926.1:n.3344+1295C>T | ||
| XR_001738927.1:n.3581C>T | ||
| NM_001079.4:c.1764C>T MANE Select | NP_001070.2:p.Thr588= | |
| NM_001378594.1:c.1764C>T | NP_001365523.1:p.Thr588= | |
| NM_207519.2:c.843C>T | NP_997402.1:p.Thr281= |