Linked Data
ClinVar Variation Id:
3068512
ClinVar RCV Id:
RCV003993704
dbSNP Id:
rs1057524900
gnomAD v2:
7-44184772-G-A
gnomAD v4:
7-44145173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145173G>A , CM000669.2:g.44145173G>A | GRCh38 |
| NC_000007.13:g.44184772G>A , CM000669.1:g.44184772G>A | GRCh37 |
| NC_000007.12:g.44151297G>A | NCBI36 |
| NG_008847.1:g.49251C>T | |
| NG_008847.2:g.57998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1359C>T | ENSP00000379142.4:n.*1359C>T | |
| ENST00000616242.5:c.*481C>T | ENSP00000482149.2:n.*481C>T | |
| ENST00000683378.1:n.587C>T | ||
| ENST00000336642.9:c.395C>T | ENSP00000338009.5:p.Ala132Val | |
| ENST00000345378.7:c.1364C>T | ENSP00000223366.2:p.Ala455Val | |
| ENST00000403799.8:c.1361C>T MANE Select | ENSP00000384247.3:p.Ala454Val | |
| ENST00000671824.1:c.1424C>T | ENSP00000500264.1:p.Ala475Val | |
| ENST00000672743.1:n.373C>T | ||
| ENST00000673284.1:c.1361C>T | ENSP00000499852.1:p.Ala454Val | |
| ENST00000336642.8:c.413C>T | ENSP00000338009.4:p.Ala138Val | |
| ENST00000345378.6:c.1364C>T | ENSP00000223366.2:p.Ala455Val | |
| ENST00000395796.7:c.1358C>T | ENSP00000379142.3:p.Ala453Val | |
| ENST00000403799.7:c.1361C>T | ENSP00000384247.3:p.Ala454Val | |
| ENST00000437084.1:c.1310C>T | ENSP00000402840.1:p.Ala437Val | |
| ENST00000459642.1:n.741C>T | ||
| ENST00000616242.4:c.1358C>T | ENSP00000482149.1:p.Ala453Val | |
| NM_000162.3:c.1361C>T | NP_000153.1:p.Ala454Val | |
| NM_033507.1:c.1364C>T | NP_277042.1:p.Ala455Val | |
| NM_033508.1:c.1358C>T | NP_277043.1:p.Ala453Val | |
| NM_000162.4:c.1361C>T | NP_000153.1:p.Ala454Val | |
| NM_001354800.1:c.1361C>T | NP_001341729.1:p.Ala454Val | |
| NM_001354801.1:c.350C>T | NP_001341730.1:p.Ala117Val | |
| NM_001354802.1:c.221C>T | NP_001341731.1:p.Ala74Val | |
| NM_001354803.1:c.395C>T | NP_001341732.1:p.Ala132Val | |
| NM_033507.2:c.1364C>T | NP_277042.1:p.Ala455Val | |
| NM_033508.2:c.1358C>T | NP_277043.1:p.Ala453Val | |
| XM_024446707.1:c.221C>T | XP_024302475.1:p.Ala74Val | |
| NM_000162.5:c.1361C>T MANE Select | NP_000153.1:p.Ala454Val | |
| NM_033507.3:c.1364C>T | NP_277042.1:p.Ala455Val | |
| NM_033508.3:c.1358C>T | NP_277043.1:p.Ala453Val | |
| NM_001354803.2:c.395C>T | NP_001341732.1:p.Ala132Val |