Linked Data
ClinVar Variation Id:
203805
dbSNP Id:
rs150591260
ExAC:
5:70936845 G / A
gnomAD v2:
5-70936845-G-A
gnomAD v3:
5-71641018-G-A
gnomAD v4:
5-71641018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71641018G>A , CM000667.2:g.71641018G>A | GRCh38 |
| NC_000005.9:g.70936845G>A , CM000667.1:g.70936845G>A | GRCh37 |
| NC_000005.8:g.70972601G>A | NCBI36 |
| NG_008882.1:g.58731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.971G>A | ||
| ENST00000505787.8:n.2904-2801G>A | ||
| ENST00000509358.7:c.*5G>A | ENSP00000420994.3:n.*5G>A | |
| ENST00000509539.3:c.277G>A | ENSP00000425474.3:p.Val93Met | |
| ENST00000629193.3:c.901G>A | ENSP00000486535.2:p.Val301Met | |
| ENST00000681968.1:c.508G>A | ENSP00000508143.1:p.Val170Met | |
| ENST00000681991.1:n.1099G>A | ||
| ENST00000682045.1:c.871G>A | ENSP00000507329.1:p.Val291Met | |
| ENST00000682214.1:c.622G>A | ENSP00000507336.1:p.Val208Met | |
| ENST00000682231.1:n.33G>A | ||
| ENST00000682499.1:n.1836G>A | ||
| ENST00000682541.1:c.1000-2801G>A | ENSP00000507673.1:n.1000-2801G>A | |
| ENST00000682667.1:n.1207G>A | ||
| ENST00000682687.1:c.1015G>A | ENSP00000507945.1:p.Val339Met | |
| ENST00000682727.1:c.1064-2801G>A | ENSP00000507393.1:n.1064-2801G>A | |
| ENST00000682876.1:c.1144G>A | ENSP00000508389.1:p.Val382Met | |
| ENST00000683098.1:c.804-5193G>A | ENSP00000507670.1:n.804-5193G>A | |
| ENST00000683258.1:c.*736G>A | ENSP00000507448.1:n.*736G>A | |
| ENST00000683339.1:c.799G>A | ENSP00000507758.1:p.Val267Met | |
| ENST00000683403.1:c.925G>A | ENSP00000507896.1:p.Val309Met | |
| ENST00000683429.1:c.622G>A | ENSP00000507697.1:p.Val208Met | |
| ENST00000683665.1:c.1015G>A | ENSP00000507068.1:p.Val339Met | |
| ENST00000683789.1:c.901G>A | ENSP00000507012.1:p.Val301Met | |
| ENST00000683847.1:n.1017G>A | ||
| ENST00000683882.1:c.1015G>A | ENSP00000506735.1:p.Val339Met | |
| ENST00000684024.1:c.*686G>A | ENSP00000507175.1:n.*686G>A | |
| ENST00000684254.1:c.*741G>A | ENSP00000508001.1:n.*741G>A | |
| ENST00000684310.1:c.181G>A | ENSP00000507550.1:p.Val61Met | |
| ENST00000684474.1:n.603G>A | ||
| ENST00000684530.1:c.277G>A | ENSP00000507439.1:p.Val93Met | |
| ENST00000684686.1:n.634G>A | ||
| ENST00000340941.11:c.1015G>A MANE Select | ENSP00000343657.6:p.Val339Met | |
| ENST00000340941.10:c.1015G>A | ENSP00000343657.6:p.Val339Met | |
| ENST00000505435.3:n.366G>A | ||
| ENST00000509358.6:c.1015G>A | ENSP00000420994.2:p.Val339Met | |
| ENST00000509539.2:c.389-2801G>A | ENSP00000425474.2:n.389-2801G>A | |
| ENST00000512218.6:c.901G>A | ENSP00000423202.2:p.Val301Met | |
| ENST00000629193.2:c.901G>A | ENSP00000486535.1:p.Val301Met | |
| NM_022132.4:c.1015G>A | NP_071415.1:p.Val339Met | |
| XM_005248567.1:c.901G>A | XP_005248624.1:p.Val301Met | |
| XM_011543528.1:c.1015G>A | XP_011541830.1:p.Val339Met | |
| NM_001363147.1:c.901G>A | NP_001350076.1:p.Val301Met | |
| XM_017009688.1:c.1064-2753G>A | XP_016865177.1:n.1064-2753G>A | |
| XR_001742172.1:n.1055G>A | ||
| NM_022132.5:c.1015G>A MANE Select | NP_071415.1:p.Val339Met |