Linked Data
ClinVar Variation Id:
2108747
ClinVar RCV Id:
RCV003038017
dbSNP Id:
rs1847265035
gnomAD v4:
11-9142097-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142097T>C , CM000673.2:g.9142097T>C | GRCh38 |
| NC_000011.9:g.9163644T>C , CM000673.1:g.9163644T>C | GRCh37 |
| NC_000011.8:g.9120220T>C | NCBI36 |
| NG_053019.1:g.128239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3523A>G MANE Select | ENSP00000328524.3:p.Thr1175Ala | |
| ENST00000525784.6:n.1385A>G | ||
| ENST00000530780.2:c.*3349A>G | ENSP00000433925.1:n.*3349A>G | |
| ENST00000531747.2:n.3194A>G | ||
| ENST00000679446.1:n.3444A>G | ||
| ENST00000679458.1:n.4924A>G | ||
| ENST00000679460.1:n.4585A>G | ||
| ENST00000679568.1:c.3523A>G | ENSP00000505860.1:p.Thr1175Ala | |
| ENST00000679745.1:n.4028A>G | ||
| ENST00000679773.1:n.2684A>G | ||
| ENST00000679926.1:n.4825A>G | ||
| ENST00000679999.1:c.*580A>G | ENSP00000505198.1:n.*580A>G | |
| ENST00000680252.1:c.3190A>G | ||
| ENST00000680294.1:c.3316A>G | ENSP00000506113.1:p.Thr1106Ala | |
| ENST00000680358.1:n.2822A>G | ||
| ENST00000680470.1:c.*1304A>G | ENSP00000505975.1:n.*1304A>G | |
| ENST00000680554.1:c.*56A>G | ENSP00000505621.1:n.*56A>G | |
| ENST00000680576.1:n.4999A>G | ||
| ENST00000680599.1:n.3564A>G | ||
| ENST00000680742.1:c.*56A>G | ENSP00000505206.1:n.*56A>G | |
| ENST00000680791.1:n.2407A>G | ||
| ENST00000680885.1:n.5225A>G | ||
| ENST00000681158.1:c.3107A>G | ||
| ENST00000681203.1:c.3451A>G | ENSP00000506456.1:p.Thr1151Ala | |
| ENST00000681371.1:n.3395A>G | ||
| ENST00000681425.1:n.4001A>G | ||
| ENST00000681639.1:n.1802A>G | ||
| ENST00000328194.7:c.3523A>G | ENSP00000328524.3:p.Thr1175Ala | |
| ENST00000525784.5:c.459A>G | ||
| ENST00000527700.5:n.3085A>G | ||
| ENST00000528725.5:c.219A>G | ||
| ENST00000529977.5:n.1424A>G | ||
| ENST00000530044.5:c.3523A>G | ENSP00000435866.1:p.Thr1175Ala | |
| ENST00000531747.1:c.759A>G | ||
| ENST00000533737.5:c.186A>G | ||
| NM_001243254.1:c.3523A>G | NP_001230183.1:p.Thr1175Ala | |
| NM_015213.3:c.3523A>G | NP_056028.2:p.Thr1175Ala | |
| XM_005252832.1:c.3523A>G | XP_005252889.1:p.Thr1175Ala | |
| XM_011519952.1:c.3523A>G | XP_011518254.1:p.Thr1175Ala | |
| XM_011519953.1:c.1621A>G | XP_011518255.1:p.Thr541Ala | |
| XR_242782.2:n.3705A>G | ||
| XR_930851.1:n.3705A>G | ||
| NM_001348749.1:c.3451A>G | NP_001335678.1:p.Thr1151Ala | |
| NM_001348750.1:c.3235A>G | NP_001335679.1:p.Thr1079Ala | |
| NR_145966.2:n.3697A>G | ||
| NM_015213.4:c.3523A>G MANE Select | NP_056028.2:p.Thr1175Ala | |
| NM_001243254.2:c.3523A>G | NP_001230183.1:p.Thr1175Ala | |
| NM_001348749.2:c.3451A>G | NP_001335678.1:p.Thr1151Ala | |
| NM_001348750.2:c.3235A>G | NP_001335679.1:p.Thr1079Ala |