Linked Data
ClinVar Variation Id:
699993
ClinVar RCV Id:
RCV000868001
dbSNP Id:
rs774809218
ExAC:
5:161576166 G / A
gnomAD v2:
5-161576166-G-A
gnomAD v3:
5-162149160-G-A
gnomAD v4:
5-162149160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149160G>A , CM000667.2:g.162149160G>A | GRCh38 |
| NC_000005.9:g.161576166G>A , CM000667.1:g.161576166G>A | GRCh37 |
| NC_000005.8:g.161508744G>A | NCBI36 |
| NG_009290.1:g.86519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.976G>A | ||
| ENST00000361925.9:c.1095G>A | ENSP00000354651.5:p.Ser365= | |
| ENST00000522053.2:n.866G>A | ||
| ENST00000523372.2:c.1058G>A | ||
| ENST00000638253.1:n.229G>A | ||
| ENST00000638552.1:c.690G>A | ENSP00000491763.1:p.Ser230= | |
| ENST00000638660.1:c.690G>A | ENSP00000492869.1:p.Ser230= | |
| ENST00000638772.1:c.975G>A | ENSP00000491557.1:p.Ser325= | |
| ENST00000638877.1:c.852G>A | ||
| ENST00000639046.1:c.366G>A | ENSP00000492659.1:p.Ser122= | |
| ENST00000639111.2:c.975G>A | ENSP00000492125.2:p.Ser325= | |
| ENST00000639213.2:c.975G>A MANE Select | ENSP00000491909.2:p.Ser325= | |
| ENST00000639278.1:c.903G>A | ENSP00000491958.1:p.Ser301= | |
| ENST00000639384.1:c.975G>A | ENSP00000491240.1:p.Ser325= | |
| ENST00000639424.1:c.*175G>A | ENSP00000491245.1:n.*175G>A | |
| ENST00000639683.1:c.909G>A | ENSP00000492581.1:p.Ser303= | |
| ENST00000639975.1:c.909G>A | ENSP00000492096.1:p.Ser303= | |
| ENST00000640500.1:n.273G>A | ||
| ENST00000640574.1:c.690G>A | ENSP00000491582.1:p.Ser230= | |
| ENST00000640739.1:n.3506G>A | ||
| ENST00000640910.1:c.413G>A | ||
| ENST00000640985.1:c.888G>A | ENSP00000492293.1:p.Ser296= | |
| ENST00000641017.1:c.975G>A | ENSP00000493461.1:p.Ser325= | |
| ENST00000356592.7:c.975G>A | ENSP00000349000.3:p.Ser325= | |
| ENST00000361925.8:c.975G>A | ENSP00000354651.4:p.Ser325= | |
| ENST00000414552.6:c.1095G>A | ENSP00000410732.2:p.Ser365= | |
| ENST00000522990.5:c.*577G>A | ENSP00000430732.1:n.*577G>A | |
| ENST00000523372.1:c.1096G>A | ENSP00000430124.1:n.1096G>A | |
| NM_000816.3:c.975G>A | NP_000807.2:p.Ser325= | |
| NM_198903.2:c.1095G>A | NP_944493.2:p.Ser365= | |
| NM_198904.2:c.975G>A | NP_944494.1:p.Ser325= | |
| NM_001375339.1:c.966G>A | NP_001362268.1:p.Ser322= | |
| NM_001375340.1:c.923-2570G>A | NP_001362269.1:n.923-2570G>A | |
| NM_001375341.1:c.972G>A | NP_001362270.1:p.Ser324= | |
| NM_001375342.1:c.972G>A | NP_001362271.1:p.Ser324= | |
| NM_001375343.1:c.1095G>A | NP_001362272.1:p.Ser365= | |
| NM_001375344.1:c.1014G>A | NP_001362273.1:p.Ser338= | |
| NM_001375345.1:c.909G>A | NP_001362274.1:p.Ser303= | |
| NM_001375346.1:c.909G>A | NP_001362275.1:p.Ser303= | |
| NM_001375347.1:c.888G>A | NP_001362276.1:p.Ser296= | |
| NM_001375348.1:c.555G>A | NP_001362277.1:p.Ser185= | |
| NM_001375349.1:c.690G>A | NP_001362278.1:p.Ser230= | |
| NM_001375350.1:c.555G>A | NP_001362279.1:p.Ser185= | |
| NM_198904.3:c.975G>A | NP_944494.1:p.Ser325= | |
| NM_198904.4:c.975G>A MANE Select | NP_944494.1:p.Ser325= |