Linked Data
ClinVar Variation Id:
446638
ClinVar RCV Id:
RCV000516083
dbSNP Id:
rs745603321
ExAC:
4:39278723 G / A
gnomAD v2:
4-39278723-G-A
gnomAD v4:
4-39277103-G-A
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39277103G>A , CM000666.2:g.39277103G>A | GRCh38 |
| NC_000004.11:g.39278723G>A , CM000666.1:g.39278723G>A | GRCh37 |
| NC_000004.10:g.38955118G>A | NCBI36 |
| NG_031813.1:g.99700G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399820.8:c.3800G>A MANE Select | ENSP00000382717.3:p.Cys1267Tyr | |
| ENST00000399820.7:c.3800G>A | ENSP00000382717.3:p.Cys1267Tyr | |
| ENST00000503733.1:n.140G>A | ||
| ENST00000506869.5:c.*3381G>A | ENSP00000424319.1:n.*3381G>A | |
| ENST00000512534.5:n.2111G>A | ||
| ENST00000512588.5:n.142G>A | ||
| NM_025132.3:c.3800G>A | NP_079408.3:p.Cys1267Tyr | |
| XM_011513724.1:c.3812G>A | XP_011512026.1:p.Cys1271Tyr | |
| XM_011513725.1:c.3746G>A | XP_011512027.1:p.Cys1249Tyr | |
| XM_011513726.1:c.3332G>A | XP_011512028.1:p.Cys1111Tyr | |
| XM_011513727.1:c.3332G>A | XP_011512029.1:p.Cys1111Tyr | |
| XM_011513728.1:c.3320G>A | XP_011512030.1:p.Cys1107Tyr | |
| XR_925155.1:n.5510G>A | ||
| NM_001317924.1:c.3320G>A | NP_001304853.1:p.Cys1107Tyr | |
| XM_011513725.2:c.3746G>A | XP_011512027.1:p.Cys1249Tyr | |
| XM_011513726.3:c.3332G>A | XP_011512028.1:p.Cys1111Tyr | |
| XM_017008501.1:c.3320G>A | XP_016863990.1:p.Cys1107Tyr | |
| XR_001741306.1:n.4077G>A | ||
| XR_001741307.1:n.4065G>A | ||
| XR_001741308.1:n.5711G>A | ||
| XR_001741309.1:n.5498G>A | ||
| XR_001741310.1:n.5699G>A | ||
| XR_001741311.2:n.5347G>A | ||
| NM_025132.4:c.3800G>A MANE Select | NP_079408.3:p.Cys1267Tyr | |
| NM_001317924.2:c.3320G>A | NP_001304853.1:p.Cys1107Tyr |