Linked Data
ClinVar Variation Id:
411558
ClinVar RCV Id:
RCV000468198
RCV000491212
RCV000677778
RCV001549488
RCV003651896
RCV003899932
RCV004001982
RCV003479129
dbSNP Id:
rs200593940
ExAC:
5:112173705 G / A
gnomAD v2:
5-112173705-G-A
gnomAD v3:
5-112838008-G-A
gnomAD v4:
5-112838008-G-A
COSMIC:
COSM1432203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838008G>A , CM000667.2:g.112838008G>A | GRCh38 |
| NC_000005.9:g.112173705G>A , CM000667.1:g.112173705G>A | GRCh37 |
| NC_000005.8:g.112201604G>A | NCBI36 |
| NG_008481.4:g.150488G>A , LRG_130:g.150488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2079G>A | ENSP00000484935.2:n.2079G>A | |
| ENST00000504915.3:c.2468G>A | ENSP00000473355.2:p.Arg823Gln | |
| ENST00000505350.2:c.*2420G>A | ENSP00000481752.1:n.*2420G>A | |
| ENST00000507379.6:c.2360G>A | ENSP00000423224.2:p.Arg787Gln | |
| ENST00000509732.6:c.2414G>A | ENSP00000426541.2:p.Arg805Gln | |
| ENST00000512211.7:c.2414G>A | ENSP00000423828.3:p.Arg805Gln | |
| ENST00000257430.9:c.2414G>A MANE Select | ENSP00000257430.4:p.Arg805Gln | |
| ENST00000257430.8:c.2414G>A | ENSP00000257430.4:p.Arg805Gln | |
| ENST00000502371.2:c.767G>A | ||
| ENST00000507379.5:c.2360G>A | ENSP00000423224.1:p.Arg787Gln | |
| ENST00000508376.6:c.2414G>A | ENSP00000427089.2:p.Arg805Gln | |
| ENST00000508624.5:c.*1736G>A | ENSP00000424265.1:n.*1736G>A | |
| ENST00000512211.6:c.2414G>A | ENSP00000423828.2:p.Arg805Gln | |
| ENST00000520401.1:c.230+9036G>A | ||
| NM_000038.5:c.2414G>A | NP_000029.2:p.Arg805Gln | |
| NM_001127510.2:c.2414G>A | NP_001120982.1:p.Arg805Gln | |
| NM_001127511.2:c.2360G>A | NP_001120983.2:p.Arg787Gln | |
| NM_001354895.1:c.2414G>A | NP_001341824.1:p.Arg805Gln | |
| NM_001354896.1:c.2468G>A | NP_001341825.1:p.Arg823Gln | |
| NM_001354897.1:c.2444G>A | NP_001341826.1:p.Arg815Gln | |
| NM_001354898.1:c.2339G>A | NP_001341827.1:p.Arg780Gln | |
| NM_001354899.1:c.2330G>A | NP_001341828.1:p.Arg777Gln | |
| NM_001354900.1:c.2291G>A | NP_001341829.1:p.Arg764Gln | |
| NM_001354901.1:c.2237G>A | NP_001341830.1:p.Arg746Gln | |
| NM_001354902.1:c.2141G>A | NP_001341831.1:p.Arg714Gln | |
| NM_001354903.1:c.2111G>A | NP_001341832.1:p.Arg704Gln | |
| NM_001354904.1:c.2036G>A | NP_001341833.1:p.Arg679Gln | |
| NM_001354905.1:c.1934G>A | NP_001341834.1:p.Arg645Gln | |
| NM_001354906.1:c.1565G>A | NP_001341835.1:p.Arg522Gln | |
| NM_000038.6:c.2414G>A MANE Select | NP_000029.2:p.Arg805Gln | |
| NM_001127510.3:c.2414G>A | NP_001120982.1:p.Arg805Gln | |
| NM_001127511.3:c.2360G>A | NP_001120983.2:p.Arg787Gln | |
| NM_001354895.2:c.2414G>A | NP_001341824.1:p.Arg805Gln | |
| NM_001354896.2:c.2468G>A | NP_001341825.1:p.Arg823Gln | |
| NM_001354897.2:c.2444G>A | NP_001341826.1:p.Arg815Gln | |
| NM_001354898.2:c.2339G>A | NP_001341827.1:p.Arg780Gln | |
| NM_001354899.2:c.2330G>A | NP_001341828.1:p.Arg777Gln | |
| NM_001354900.2:c.2291G>A | NP_001341829.1:p.Arg764Gln | |
| NM_001354901.2:c.2237G>A | NP_001341830.1:p.Arg746Gln | |
| NM_001354902.2:c.2141G>A | NP_001341831.1:p.Arg714Gln | |
| NM_001354903.2:c.2111G>A | NP_001341832.1:p.Arg704Gln | |
| NM_001354904.2:c.2036G>A | NP_001341833.1:p.Arg679Gln | |
| NM_001354905.2:c.1934G>A | NP_001341834.1:p.Arg645Gln | |
| NM_001354906.2:c.1565G>A | NP_001341835.1:p.Arg522Gln |