Linked Data
ClinVar Variation Id:
142278
dbSNP Id:
rs149154604
ExAC:
5:112151205 G / A
gnomAD v2:
5-112151205-G-A
gnomAD v3:
5-112815508-G-A
gnomAD v4:
5-112815508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112815508G>A , CM000667.2:g.112815508G>A | GRCh38 |
| NC_000005.9:g.112151205G>A , CM000667.1:g.112151205G>A | GRCh37 |
| NC_000005.8:g.112179104G>A | NCBI36 |
| NG_008481.4:g.127988G>A , LRG_130:g.127988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.848G>A | ENSP00000484935.2:p.Arg283Gln | |
| ENST00000504915.3:c.848G>A | ENSP00000473355.2:p.Arg283Gln | |
| ENST00000505084.2:n.904G>A | ||
| ENST00000505350.2:c.*854G>A | ENSP00000481752.1:n.*854G>A | |
| ENST00000507379.6:c.794G>A | ENSP00000423224.2:p.Arg265Gln | |
| ENST00000509732.6:c.848G>A | ENSP00000426541.2:p.Arg283Gln | |
| ENST00000512211.7:c.848G>A | ENSP00000423828.3:p.Arg283Gln | |
| ENST00000257430.9:c.848G>A MANE Select | ENSP00000257430.4:p.Arg283Gln | |
| ENST00000257430.8:c.848G>A | ENSP00000257430.4:p.Arg283Gln | |
| ENST00000507379.5:c.794G>A | ENSP00000423224.1:p.Arg265Gln | |
| ENST00000508376.6:c.848G>A | ENSP00000427089.2:p.Arg283Gln | |
| ENST00000508624.5:c.*170G>A | ENSP00000424265.1:n.*170G>A | |
| ENST00000512211.6:c.848G>A | ENSP00000423828.2:p.Arg283Gln | |
| NM_000038.5:c.848G>A | NP_000029.2:p.Arg283Gln | |
| NM_001127510.2:c.848G>A | NP_001120982.1:p.Arg283Gln | |
| NM_001127511.2:c.794G>A | NP_001120983.2:p.Arg265Gln | |
| NM_001354895.1:c.848G>A | NP_001341824.1:p.Arg283Gln | |
| NM_001354896.1:c.848G>A | NP_001341825.1:p.Arg283Gln | |
| NM_001354897.1:c.878G>A | NP_001341826.1:p.Arg293Gln | |
| NM_001354898.1:c.773G>A | NP_001341827.1:p.Arg258Gln | |
| NM_001354899.1:c.764G>A | NP_001341828.1:p.Arg255Gln | |
| NM_001354900.1:c.671G>A | NP_001341829.1:p.Arg224Gln | |
| NM_001354901.1:c.671G>A | NP_001341830.1:p.Arg224Gln | |
| NM_001354902.1:c.878G>A | NP_001341831.1:p.Arg293Gln | |
| NM_001354903.1:c.848G>A | NP_001341832.1:p.Arg283Gln | |
| NM_001354904.1:c.773G>A | NP_001341833.1:p.Arg258Gln | |
| NM_001354905.1:c.671G>A | NP_001341834.1:p.Arg224Gln | |
| NM_001354906.1:c.-2G>A | NP_001341835.1:n.-2G>A | |
| NM_000038.6:c.848G>A MANE Select | NP_000029.2:p.Arg283Gln | |
| NM_001127510.3:c.848G>A | NP_001120982.1:p.Arg283Gln | |
| NM_001127511.3:c.794G>A | NP_001120983.2:p.Arg265Gln | |
| NM_001354895.2:c.848G>A | NP_001341824.1:p.Arg283Gln | |
| NM_001354896.2:c.848G>A | NP_001341825.1:p.Arg283Gln | |
| NM_001354897.2:c.878G>A | NP_001341826.1:p.Arg293Gln | |
| NM_001354898.2:c.773G>A | NP_001341827.1:p.Arg258Gln | |
| NM_001354899.2:c.764G>A | NP_001341828.1:p.Arg255Gln | |
| NM_001354900.2:c.671G>A | NP_001341829.1:p.Arg224Gln | |
| NM_001354901.2:c.671G>A | NP_001341830.1:p.Arg224Gln | |
| NM_001354902.2:c.878G>A | NP_001341831.1:p.Arg293Gln | |
| NM_001354903.2:c.848G>A | NP_001341832.1:p.Arg283Gln | |
| NM_001354904.2:c.773G>A | NP_001341833.1:p.Arg258Gln | |
| NM_001354905.2:c.671G>A | NP_001341834.1:p.Arg224Gln | |
| NM_001354906.2:c.-2G>A | NP_001341835.1:n.-2G>A |