Linked Data
ClinVar Variation Id:
1572603
dbSNP Id:
rs374883101
ExAC:
X:64737934 G / A
gnomAD v2:
X-64737934-G-A
gnomAD v3:
X-65518054-G-A
gnomAD v4:
X-65518054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.65518054G>A , CM000685.2:g.65518054G>A | GRCh38 |
| NC_000023.10:g.64737934G>A , CM000685.1:g.64737934G>A | GRCh37 |
| NC_000023.9:g.64654659G>A | NCBI36 |
| NG_016369.1:g.21753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374811.8:c.1860C>T MANE Select | ENSP00000363944.3:p.Ala620= | |
| ENST00000677056.1:c.*851+5506C>T | ENSP00000504224.1:n.*851+5506C>T | |
| ENST00000677087.1:c.1512C>T | ENSP00000503907.1:p.Ala504= | |
| ENST00000677154.1:n.5915C>T | ||
| ENST00000677834.1:n.1848C>T | ||
| ENST00000677969.1:c.1809C>T | ENSP00000503410.1:p.Ala603= | |
| ENST00000677986.1:n.2909C>T | ||
| ENST00000678074.1:n.4487C>T | ||
| ENST00000678173.1:n.3198C>T | ||
| ENST00000678547.1:n.6478C>T | ||
| ENST00000678705.1:n.4575C>T | ||
| ENST00000678848.1:n.6763C>T | ||
| ENST00000678956.1:c.*1716C>T | ENSP00000504653.1:n.*1716C>T | |
| ENST00000679056.1:n.5838C>T | ||
| ENST00000679116.1:n.7053C>T | ||
| ENST00000679261.1:n.5960C>T | ||
| ENST00000679277.1:n.6296C>T | ||
| ENST00000374804.9:c.1683C>T | ENSP00000363937.5:p.Ala561= | |
| ENST00000374807.9:c.1809C>T | ENSP00000363940.5:p.Ala603= | |
| ENST00000374811.7:c.1860C>T | ENSP00000363944.3:p.Ala620= | |
| ENST00000484069.1:c.*3732C>T | ENSP00000473471.1:n.*3732C>T | |
| NM_001170649.1:c.1809C>T | NP_001164120.1:p.Ala603= | |
| NM_001170650.1:c.1683C>T | NP_001164121.1:p.Ala561= | |
| NM_031206.4:c.1860C>T | NP_112483.1:p.Ala620= | |
| XM_005262301.1:c.1860C>T | XP_005262358.1:p.Ala620= | |
| XM_005262307.1:c.954C>T | XP_005262364.1:p.Ala318= | |
| XM_011531045.1:c.1734C>T | XP_011529347.1:p.Ala578= | |
| XR_244504.1:n.2052C>T | ||
| XR_430522.1:n.2052C>T | ||
| XM_005262301.2:c.1860C>T | XP_005262358.1:p.Ala620= | |
| XM_011531045.2:c.1734C>T | XP_011529347.1:p.Ala578= | |
| XM_017029877.2:c.1809C>T | XP_016885366.1:p.Ala603= | |
| XM_017029879.2:c.954C>T | XP_016885368.1:p.Ala318= | |
| XM_017029880.2:c.903C>T | XP_016885369.1:p.Ala301= | |
| XR_001755730.2:n.1988C>T | ||
| XR_001755731.2:n.3507C>T | ||
| XR_001755732.2:n.3570C>T | ||
| XR_001755733.2:n.3519C>T | ||
| XR_244504.2:n.2039C>T | ||
| XR_430522.2:n.2039C>T | ||
| NM_001375328.1:c.1860C>T | NP_001362257.1:p.Ala620= | |
| NM_001375332.1:c.903C>T | NP_001362261.1:p.Ala301= | |
| NM_001375333.1:c.1809C>T | NP_001362262.1:p.Ala603= | |
| NM_031206.7:c.1860C>T MANE Select | NP_112483.1:p.Ala620= | |
| NR_164681.1:n.2048C>T | ||
| NM_001170649.2:c.1809C>T | NP_001164120.1:p.Ala603= | |
| NM_001170650.2:c.1683C>T | NP_001164121.1:p.Ala561= |