Linked Data
ClinVar Variation Id:
522767
ClinVar RCV Id:
RCV000625928
dbSNP Id:
rs1555472064
gnomAD v3:
16-47499792-C-T
gnomAD v4:
16-47499792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47499792C>T , CM000678.2:g.47499792C>T | GRCh38 |
| NC_000016.9:g.47533703C>T , CM000678.1:g.47533703C>T | GRCh37 |
| NC_000016.8:g.46091204C>T | NCBI36 |
| NG_016598.1:g.43494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.182C>T | ENSP00000512887.1:p.Thr61Ile | |
| ENST00000699276.1:c.182C>T | ENSP00000514257.1:p.Thr61Ile | |
| ENST00000323584.10:c.203C>T MANE Select | ENSP00000313504.5:p.Thr68Ile | |
| ENST00000299167.12:c.203C>T | ENSP00000299167.8:p.Thr68Ile | |
| ENST00000323584.9:c.203C>T | ENSP00000313504.5:p.Thr68Ile | |
| ENST00000563376.5:c.182C>T | ENSP00000457905.1:p.Thr61Ile | |
| ENST00000564873.1:c.182C>T | ENSP00000460408.1:p.Thr61Ile | |
| ENST00000565424.2:n.96+38366C>T | ||
| ENST00000566037.6:c.182C>T | ENSP00000455664.2:p.Thr61Ile | |
| ENST00000566044.5:c.182C>T | ENSP00000456729.1:p.Thr61Ile | |
| ENST00000567402.5:n.218C>T | ||
| ENST00000570047.2:c.37C>T | ||
| NM_000293.2:c.203C>T | NP_000284.1:p.Thr68Ile | |
| NM_001031835.2:c.182C>T | NP_001027005.1:p.Thr61Ile | |
| XM_005255983.3:c.203C>T | XP_005256040.1:p.Thr68Ile | |
| XM_005255984.3:c.182C>T | XP_005256041.1:p.Thr61Ile | |
| XM_011523106.1:c.203C>T | XP_011521408.1:p.Thr68Ile | |
| NM_001363837.1:c.203C>T | NP_001350766.1:p.Thr68Ile | |
| XM_005255983.4:c.203C>T | XP_005256040.1:p.Thr68Ile | |
| XM_005255984.4:c.182C>T | XP_005256041.1:p.Thr61Ile | |
| XM_017023283.1:c.-1303C>T | XP_016878772.1:n.-1303C>T | |
| XM_017023284.1:c.-1303C>T | XP_016878773.1:n.-1303C>T | |
| XR_001751913.1:n.218C>T | ||
| NM_000293.3:c.203C>T MANE Select | NP_000284.1:p.Thr68Ile | |
| NM_001031835.3:c.182C>T | NP_001027005.1:p.Thr61Ile |