Linked Data
ClinVar Variation Id:
184023
ClinVar RCV Id:
RCV000163132
RCV000409994
RCV000607365
RCV003315988
RCV003477585
RCV003945263
RCV003995236
dbSNP Id:
rs746289994
ExAC:
5:112175200 A / G
gnomAD v2:
5-112175200-A-G
gnomAD v4:
5-112839503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839503A>G , CM000667.2:g.112839503A>G | GRCh38 |
| NC_000005.9:g.112175200A>G , CM000667.1:g.112175200A>G | GRCh37 |
| NC_000005.8:g.112203099A>G | NCBI36 |
| NG_008481.4:g.151983A>G , LRG_130:g.151983A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3574A>G | ENSP00000484935.2:n.3574A>G | |
| ENST00000504915.3:c.3963A>G | ENSP00000473355.2:p.Gln1321= | |
| ENST00000505350.2:c.*3915A>G | ENSP00000481752.1:n.*3915A>G | |
| ENST00000507379.6:c.3855A>G | ENSP00000423224.2:p.Gln1285= | |
| ENST00000509732.6:c.3909A>G | ENSP00000426541.2:p.Gln1303= | |
| ENST00000512211.7:c.3909A>G | ENSP00000423828.3:p.Gln1303= | |
| ENST00000257430.9:c.3909A>G MANE Select | ENSP00000257430.4:p.Gln1303= | |
| ENST00000257430.8:c.3909A>G | ENSP00000257430.4:p.Gln1303= | |
| ENST00000502371.2:c.2262A>G | ||
| ENST00000508376.6:c.3909A>G | ENSP00000427089.2:p.Gln1303= | |
| ENST00000508624.5:c.*3231A>G | ENSP00000424265.1:n.*3231A>G | |
| ENST00000512211.6:c.3909A>G | ENSP00000423828.2:p.Gln1303= | |
| ENST00000520401.1:c.230+10531A>G | ||
| NM_000038.5:c.3909A>G | NP_000029.2:p.Gln1303= | |
| NM_001127510.2:c.3909A>G | NP_001120982.1:p.Gln1303= | |
| NM_001127511.2:c.3855A>G | NP_001120983.2:p.Gln1285= | |
| NM_001354895.1:c.3909A>G | NP_001341824.1:p.Gln1303= | |
| NM_001354896.1:c.3963A>G | NP_001341825.1:p.Gln1321= | |
| NM_001354897.1:c.3939A>G | NP_001341826.1:p.Gln1313= | |
| NM_001354898.1:c.3834A>G | NP_001341827.1:p.Gln1278= | |
| NM_001354899.1:c.3825A>G | NP_001341828.1:p.Gln1275= | |
| NM_001354900.1:c.3786A>G | NP_001341829.1:p.Gln1262= | |
| NM_001354901.1:c.3732A>G | NP_001341830.1:p.Gln1244= | |
| NM_001354902.1:c.3636A>G | NP_001341831.1:p.Gln1212= | |
| NM_001354903.1:c.3606A>G | NP_001341832.1:p.Gln1202= | |
| NM_001354904.1:c.3531A>G | NP_001341833.1:p.Gln1177= | |
| NM_001354905.1:c.3429A>G | NP_001341834.1:p.Gln1143= | |
| NM_001354906.1:c.3060A>G | NP_001341835.1:p.Gln1020= | |
| NM_000038.6:c.3909A>G MANE Select | NP_000029.2:p.Gln1303= | |
| NM_001127510.3:c.3909A>G | NP_001120982.1:p.Gln1303= | |
| NM_001127511.3:c.3855A>G | NP_001120983.2:p.Gln1285= | |
| NM_001354895.2:c.3909A>G | NP_001341824.1:p.Gln1303= | |
| NM_001354896.2:c.3963A>G | NP_001341825.1:p.Gln1321= | |
| NM_001354897.2:c.3939A>G | NP_001341826.1:p.Gln1313= | |
| NM_001354898.2:c.3834A>G | NP_001341827.1:p.Gln1278= | |
| NM_001354899.2:c.3825A>G | NP_001341828.1:p.Gln1275= | |
| NM_001354900.2:c.3786A>G | NP_001341829.1:p.Gln1262= | |
| NM_001354901.2:c.3732A>G | NP_001341830.1:p.Gln1244= | |
| NM_001354902.2:c.3636A>G | NP_001341831.1:p.Gln1212= | |
| NM_001354903.2:c.3606A>G | NP_001341832.1:p.Gln1202= | |
| NM_001354904.2:c.3531A>G | NP_001341833.1:p.Gln1177= | |
| NM_001354905.2:c.3429A>G | NP_001341834.1:p.Gln1143= | |
| NM_001354906.2:c.3060A>G | NP_001341835.1:p.Gln1020= |