Linked Data
ClinVar Variation Id:
127295
ClinVar RCV Id:
RCV000115092
RCV000148365
RCV000200964
RCV000238996
RCV000264340
RCV000586737
RCV001270348
RCV000987572
RCV003650370
dbSNP Id:
rs111866410
ExAC:
5:112175651 A / G
gnomAD v2:
5-112175651-A-G
gnomAD v3:
5-112839954-A-G
gnomAD v4:
5-112839954-A-G
COSMIC:
COSM27993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839954A>G , CM000667.2:g.112839954A>G | GRCh38 |
| NC_000005.9:g.112175651A>G , CM000667.1:g.112175651A>G | GRCh37 |
| NC_000005.8:g.112203550A>G | NCBI36 |
| NG_008481.4:g.152434A>G , LRG_130:g.152434A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4414A>G | ENSP00000473355.2:p.Lys1472Glu | |
| ENST00000505350.2:c.*4366A>G | ENSP00000481752.1:n.*4366A>G | |
| ENST00000507379.6:c.4306A>G | ENSP00000423224.2:p.Lys1436Glu | |
| ENST00000509732.6:c.4360A>G | ENSP00000426541.2:p.Lys1454Glu | |
| ENST00000512211.7:c.4360A>G | ENSP00000423828.3:p.Lys1454Glu | |
| ENST00000257430.9:c.4360A>G MANE Select | ENSP00000257430.4:p.Lys1454Glu | |
| ENST00000257430.8:c.4360A>G | ENSP00000257430.4:p.Lys1454Glu | |
| ENST00000508376.6:c.4360A>G | ENSP00000427089.2:p.Lys1454Glu | |
| ENST00000508624.5:c.*3682A>G | ENSP00000424265.1:n.*3682A>G | |
| ENST00000520401.1:c.230+10982A>G | ||
| NM_000038.5:c.4360A>G | NP_000029.2:p.Lys1454Glu | |
| NM_001127510.2:c.4360A>G | NP_001120982.1:p.Lys1454Glu | |
| NM_001127511.2:c.4306A>G | NP_001120983.2:p.Lys1436Glu | |
| NM_001354895.1:c.4360A>G | NP_001341824.1:p.Lys1454Glu | |
| NM_001354896.1:c.4414A>G | NP_001341825.1:p.Lys1472Glu | |
| NM_001354897.1:c.4390A>G | NP_001341826.1:p.Lys1464Glu | |
| NM_001354898.1:c.4285A>G | NP_001341827.1:p.Lys1429Glu | |
| NM_001354899.1:c.4276A>G | NP_001341828.1:p.Lys1426Glu | |
| NM_001354900.1:c.4237A>G | NP_001341829.1:p.Lys1413Glu | |
| NM_001354901.1:c.4183A>G | NP_001341830.1:p.Lys1395Glu | |
| NM_001354902.1:c.4087A>G | NP_001341831.1:p.Lys1363Glu | |
| NM_001354903.1:c.4057A>G | NP_001341832.1:p.Lys1353Glu | |
| NM_001354904.1:c.3982A>G | NP_001341833.1:p.Lys1328Glu | |
| NM_001354905.1:c.3880A>G | NP_001341834.1:p.Lys1294Glu | |
| NM_001354906.1:c.3511A>G | NP_001341835.1:p.Lys1171Glu | |
| NM_000038.6:c.4360A>G MANE Select | NP_000029.2:p.Lys1454Glu | |
| NM_001127510.3:c.4360A>G | NP_001120982.1:p.Lys1454Glu | |
| NM_001127511.3:c.4306A>G | NP_001120983.2:p.Lys1436Glu | |
| NM_001354895.2:c.4360A>G | NP_001341824.1:p.Lys1454Glu | |
| NM_001354896.2:c.4414A>G | NP_001341825.1:p.Lys1472Glu | |
| NM_001354897.2:c.4390A>G | NP_001341826.1:p.Lys1464Glu | |
| NM_001354898.2:c.4285A>G | NP_001341827.1:p.Lys1429Glu | |
| NM_001354899.2:c.4276A>G | NP_001341828.1:p.Lys1426Glu | |
| NM_001354900.2:c.4237A>G | NP_001341829.1:p.Lys1413Glu | |
| NM_001354901.2:c.4183A>G | NP_001341830.1:p.Lys1395Glu | |
| NM_001354902.2:c.4087A>G | NP_001341831.1:p.Lys1363Glu | |
| NM_001354903.2:c.4057A>G | NP_001341832.1:p.Lys1353Glu | |
| NM_001354904.2:c.3982A>G | NP_001341833.1:p.Lys1328Glu | |
| NM_001354905.2:c.3880A>G | NP_001341834.1:p.Lys1294Glu | |
| NM_001354906.2:c.3511A>G | NP_001341835.1:p.Lys1171Glu |