Linked Data
ClinVar Variation Id:
475723
dbSNP Id:
rs62324113
ExAC:
4:123900457 G / T
gnomAD v2:
4-123900457-G-T
gnomAD v3:
4-122979302-G-T
gnomAD v4:
4-122979302-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122979302G>T , CM000666.2:g.122979302G>T | GRCh38 |
| NC_000004.11:g.123900457G>T , CM000666.1:g.123900457G>T | GRCh37 |
| NC_000004.10:g.124119907G>T | NCBI36 |
| NG_051570.1:g.61233G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274008.5:c.1785G>T MANE Select | ENSP00000274008.3:p.Val595= | |
| ENST00000674886.1:n.1847G>T | ||
| ENST00000675612.1:c.1854G>T | ENSP00000502453.1:p.Val618= | |
| ENST00000274008.4:c.1785G>T | ENSP00000274008.3:p.Val595= | |
| ENST00000422835.2:n.1827G>T | ||
| NM_145207.2:c.1785G>T | NP_660208.2:p.Val595= | |
| XM_005262783.3:c.1782G>T | XP_005262840.1:p.Val594= | |
| XM_011531678.1:c.1854G>T | XP_011529980.1:p.Val618= | |
| XM_011531679.1:c.1785G>T | XP_011529981.1:p.Val595= | |
| NM_001317799.1:c.1782G>T | NP_001304728.1:p.Val594= | |
| NM_001345856.1:c.1782G>T | NP_001332785.1:p.Val594= | |
| XM_011531678.2:c.1854G>T | XP_011529980.1:p.Val618= | |
| XM_011531679.3:c.1785G>T | XP_011529981.1:p.Val595= | |
| XM_017007825.1:c.1857G>T | XP_016863314.1:p.Val619= | |
| XM_017007826.1:c.1857G>T | XP_016863315.1:p.Val619= | |
| XM_017007827.2:c.1857G>T | XP_016863316.1:p.Val619= | |
| XM_017007828.1:c.1563G>T | XP_016863317.1:p.Val521= | |
| XM_017007829.1:c.1401G>T | XP_016863318.1:p.Val467= | |
| XR_001741151.1:n.1855G>T | ||
| NM_145207.3:c.1785G>T MANE Select | NP_660208.2:p.Val595= | |
| NM_001317799.2:c.1782G>T | NP_001304728.1:p.Val594= | |
| NM_001345856.2:c.1782G>T | NP_001332785.1:p.Val594= |