Linked Data
ClinVar Variation Id:
2899900
ClinVar RCV Id:
RCV003601093
dbSNP Id:
rs372036992
ExAC:
5:70930842 G / A
gnomAD v2:
5-70930842-G-A
gnomAD v3:
5-71635015-G-A
gnomAD v4:
5-71635015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635015G>A , CM000667.2:g.71635015G>A | GRCh38 |
| NC_000005.9:g.70930842G>A , CM000667.1:g.70930842G>A | GRCh37 |
| NC_000005.8:g.70966598G>A | NCBI36 |
| NG_008882.1:g.52728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.832G>A | ||
| ENST00000505787.8:n.2716G>A | ||
| ENST00000509358.7:c.876G>A | ENSP00000420994.3:p.Arg292= | |
| ENST00000509539.3:c.138G>A | ENSP00000425474.3:p.Arg46= | |
| ENST00000510895.7:n.999G>A | ||
| ENST00000629193.3:c.762G>A | ENSP00000486535.2:p.Arg254= | |
| ENST00000681968.1:c.369G>A | ENSP00000508143.1:p.Arg123= | |
| ENST00000682045.1:c.732G>A | ENSP00000507329.1:p.Arg244= | |
| ENST00000682214.1:c.483G>A | ENSP00000507336.1:p.Arg161= | |
| ENST00000682499.1:n.1697G>A | ||
| ENST00000682541.1:c.876G>A | ENSP00000507673.1:p.Arg292= | |
| ENST00000682687.1:c.876G>A | ENSP00000507945.1:p.Arg292= | |
| ENST00000682727.1:c.876G>A | ENSP00000507393.1:p.Arg292= | |
| ENST00000682876.1:c.1005G>A | ENSP00000508389.1:p.Arg335= | |
| ENST00000683098.1:c.803+2830G>A | ENSP00000507670.1:n.803+2830G>A | |
| ENST00000683258.1:c.*597G>A | ENSP00000507448.1:n.*597G>A | |
| ENST00000683339.1:c.660G>A | ENSP00000507758.1:p.Arg220= | |
| ENST00000683403.1:c.813+63G>A | ENSP00000507896.1:n.813+63G>A | |
| ENST00000683429.1:c.483G>A | ENSP00000507697.1:p.Arg161= | |
| ENST00000683665.1:c.876G>A | ENSP00000507068.1:p.Arg292= | |
| ENST00000683789.1:c.762G>A | ENSP00000507012.1:p.Arg254= | |
| ENST00000683847.1:n.720G>A | ||
| ENST00000683882.1:c.876G>A | ENSP00000506735.1:p.Arg292= | |
| ENST00000684024.1:c.*547G>A | ENSP00000507175.1:n.*547G>A | |
| ENST00000684254.1:c.*602G>A | ENSP00000508001.1:n.*602G>A | |
| ENST00000684310.1:c.138G>A | ENSP00000507550.1:p.Arg46= | |
| ENST00000684530.1:c.138G>A | ENSP00000507439.1:p.Arg46= | |
| ENST00000684652.1:n.1878G>A | ||
| ENST00000340941.11:c.876G>A MANE Select | ENSP00000343657.6:p.Arg292= | |
| ENST00000340941.10:c.876G>A | ENSP00000343657.6:p.Arg292= | |
| ENST00000505435.3:n.227G>A | ||
| ENST00000505787.7:n.690G>A | ||
| ENST00000509358.6:c.876G>A | ENSP00000420994.2:p.Arg292= | |
| ENST00000509539.2:c.201G>A | ENSP00000425474.2:p.Arg67= | |
| ENST00000510895.6:n.490G>A | ||
| ENST00000512218.6:c.762G>A | ENSP00000423202.2:p.Arg254= | |
| ENST00000629193.2:c.762G>A | ENSP00000486535.1:p.Arg254= | |
| NM_022132.4:c.876G>A | NP_071415.1:p.Arg292= | |
| XM_005248567.1:c.762G>A | XP_005248624.1:p.Arg254= | |
| XM_011543528.1:c.876G>A | XP_011541830.1:p.Arg292= | |
| XM_011543529.1:c.876G>A | XP_011541831.1:p.Arg292= | |
| NM_001363147.1:c.762G>A | NP_001350076.1:p.Arg254= | |
| XM_011543529.2:c.876G>A | XP_011541831.1:p.Arg292= | |
| XM_017009688.1:c.876G>A | XP_016865177.1:p.Arg292= | |
| XR_001742172.1:n.916G>A | ||
| NM_022132.5:c.876G>A MANE Select | NP_071415.1:p.Arg292= |