Linked Data
ClinVar Variation Id:
543292
dbSNP Id:
rs970494454
gnomAD v2:
1-156108329-G-A
gnomAD v4:
1-156138538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138538G>A , CM000663.2:g.156138538G>A | GRCh38 |
| NC_000001.10:g.156108329G>A , CM000663.1:g.156108329G>A | GRCh37 |
| NC_000001.9:g.154374953G>A | NCBI36 |
| NG_008692.2:g.60966G>A , LRG_254:g.60966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1191G>A | ENSP00000426535.3:p.Ser397= | |
| ENST00000682650.1:c.1659G>A | ENSP00000506904.1:p.Ser553= | |
| ENST00000683032.1:c.1749G>A | ENSP00000506771.1:p.Ser583= | |
| ENST00000683773.1:n.94G>A | ||
| ENST00000684195.1:c.*841G>A | ENSP00000508220.1:n.*841G>A | |
| ENST00000361308.9:c.1749G>A | ENSP00000355292.6:p.Ser583= | |
| ENST00000368300.9:c.1749G>A MANE Select | ENSP00000357283.4:p.Ser583= | |
| ENST00000496738.6:n.2952G>A | ||
| ENST00000674518.1:c.*1099G>A | ENSP00000502261.1:n.*1099G>A | |
| ENST00000674600.1:c.*1548G>A | ENSP00000501666.1:n.*1548G>A | |
| ENST00000674720.1:c.*1055G>A | ENSP00000502798.1:n.*1055G>A | |
| ENST00000675455.1:c.*1549G>A | ENSP00000501795.1:n.*1549G>A | |
| ENST00000675667.1:c.1749G>A | ENSP00000501803.1:p.Ser583= | |
| ENST00000675874.1:c.*1220G>A | ENSP00000501851.1:n.*1220G>A | |
| ENST00000675881.1:c.*760G>A | ENSP00000501670.1:n.*760G>A | |
| ENST00000675939.1:c.1749G>A | ENSP00000502256.1:p.Ser583= | |
| ENST00000675989.1:n.3352G>A | ||
| ENST00000676208.1:c.*852G>A | ENSP00000502468.1:n.*852G>A | |
| ENST00000676283.1:n.3289G>A | ||
| ENST00000676385.2:c.1659G>A | ENSP00000502091.1:p.Ser553= | |
| ENST00000676434.1:c.*1504G>A | ENSP00000501648.1:n.*1504G>A | |
| ENST00000347559.6:c.1659G>A | ENSP00000292304.3:p.Ser553= | |
| ENST00000368299.7:c.1749G>A | ENSP00000357282.3:p.Ser583= | |
| ENST00000368300.8:c.1749G>A | ENSP00000357283.4:p.Ser583= | |
| ENST00000448611.6:c.1413G>A | ENSP00000395597.2:p.Ser471= | |
| ENST00000473598.6:c.1452G>A | ENSP00000421821.1:p.Ser484= | |
| ENST00000496738.5:n.1962G>A | ||
| ENST00000506981.1:n.333G>A | ||
| ENST00000508500.1:c.537G>A | ENSP00000424977.1:p.Ser179= | |
| NM_001257374.2:c.1413G>A | NP_001244303.1:p.Ser471= | |
| NM_001282626.1:c.1749G>A | NP_001269555.1:p.Ser583= | |
| NM_170707.3:c.1749G>A | NP_733821.1:p.Ser583= | |
| NM_170708.3:c.1659G>A | NP_733822.1:p.Ser553= | |
| XM_011509533.1:c.1413G>A | XP_011507835.1:p.Ser471= | |
| XM_011509534.1:c.1125G>A | XP_011507836.1:p.Ser375= | |
| XR_921781.1:n.2038G>A | ||
| XM_011509534.2:c.1125G>A | XP_011507836.1:p.Ser375= | |
| XR_921781.2:n.2036G>A | ||
| NM_170707.4:c.1749G>A MANE Select | NP_733821.1:p.Ser583= | |
| NM_001257374.3:c.1413G>A | NP_001244303.1:p.Ser471= | |
| NM_001282626.2:c.1749G>A | NP_001269555.1:p.Ser583= | |
| NM_170708.4:c.1659G>A | NP_733822.1:p.Ser553= |