Linked Data
ClinVar Variation Id:
30706
ClinVar RCV Id:
RCV000023684
dbSNP Id:
rs387906983
PubMed:
PMID:22019273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39215913T>G , CM000666.2:g.39215913T>G | GRCh38 |
| NC_000004.11:g.39217533T>G , CM000666.1:g.39217533T>G | GRCh37 |
| NC_000004.10:g.38893928T>G | NCBI36 |
| NG_031813.1:g.38510T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1034T>G MANE Select | ENSP00000382717.3:p.Val345Gly | |
| ENST00000399820.7:c.1034T>G | ENSP00000382717.3:p.Val345Gly | |
| ENST00000503697.5:c.*502T>G | ENSP00000423706.1:n.*502T>G | |
| ENST00000506503.1:c.1034T>G | ENSP00000423491.1:p.Val345Gly | |
| ENST00000506869.5:c.*615T>G | ENSP00000424319.1:n.*615T>G | |
| ENST00000511729.5:n.41-12645T>G | ||
| ENST00000512095.5:n.32T>G | ||
| NM_025132.3:c.1034T>G | NP_079408.3:p.Val345Gly | |
| XM_011513724.1:c.1034T>G | XP_011512026.1:p.Val345Gly | |
| XM_011513725.1:c.968T>G | XP_011512027.1:p.Val323Gly | |
| XM_011513726.1:c.554T>G | XP_011512028.1:p.Val185Gly | |
| XM_011513727.1:c.554T>G | XP_011512029.1:p.Val185Gly | |
| XM_011513728.1:c.554T>G | XP_011512030.1:p.Val185Gly | |
| XM_011513729.1:c.1034T>G | XP_011512031.1:p.Val345Gly | |
| XR_925155.1:n.1098T>G | ||
| NM_001317924.1:c.554T>G | NP_001304853.1:p.Val185Gly | |
| XM_011513725.2:c.968T>G | XP_011512027.1:p.Val323Gly | |
| XM_011513726.3:c.554T>G | XP_011512028.1:p.Val185Gly | |
| XM_017008501.1:c.554T>G | XP_016863990.1:p.Val185Gly | |
| XR_001741306.1:n.1098T>G | ||
| XR_001741307.1:n.1098T>G | ||
| XR_001741308.1:n.1098T>G | ||
| XR_001741309.1:n.1098T>G | ||
| XR_001741310.1:n.1098T>G | ||
| XR_001741311.2:n.947T>G | ||
| XR_001741312.1:n.1098T>G | ||
| NM_025132.4:c.1034T>G MANE Select | NP_079408.3:p.Val345Gly | |
| NM_001317924.2:c.554T>G | NP_001304853.1:p.Val185Gly |