Linked Data
ClinVar Variation Id:
188375
dbSNP Id:
rs548176472
ExAC:
5:112174605 G / A
gnomAD v2:
5-112174605-G-A
gnomAD v3:
5-112838908-G-A
gnomAD v4:
5-112838908-G-A
COSMIC:
COSM4127113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838908G>A , CM000667.2:g.112838908G>A | GRCh38 |
| NC_000005.9:g.112174605G>A , CM000667.1:g.112174605G>A | GRCh37 |
| NC_000005.8:g.112202504G>A | NCBI36 |
| NG_008481.4:g.151388G>A , LRG_130:g.151388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2979G>A | ENSP00000484935.2:n.2979G>A | |
| ENST00000504915.3:c.3368G>A | ENSP00000473355.2:p.Arg1123Gln | |
| ENST00000505350.2:c.*3320G>A | ENSP00000481752.1:n.*3320G>A | |
| ENST00000507379.6:c.3260G>A | ENSP00000423224.2:p.Arg1087Gln | |
| ENST00000509732.6:c.3314G>A | ENSP00000426541.2:p.Arg1105Gln | |
| ENST00000512211.7:c.3314G>A | ENSP00000423828.3:p.Arg1105Gln | |
| ENST00000257430.9:c.3314G>A MANE Select | ENSP00000257430.4:p.Arg1105Gln | |
| ENST00000257430.8:c.3314G>A | ENSP00000257430.4:p.Arg1105Gln | |
| ENST00000502371.2:c.1667G>A | ||
| ENST00000507379.5:c.3260G>A | ENSP00000423224.1:p.Arg1087Gln | |
| ENST00000508376.6:c.3314G>A | ENSP00000427089.2:p.Arg1105Gln | |
| ENST00000508624.5:c.*2636G>A | ENSP00000424265.1:n.*2636G>A | |
| ENST00000512211.6:c.3314G>A | ENSP00000423828.2:p.Arg1105Gln | |
| ENST00000520401.1:c.230+9936G>A | ||
| NM_000038.5:c.3314G>A | NP_000029.2:p.Arg1105Gln | |
| NM_001127510.2:c.3314G>A | NP_001120982.1:p.Arg1105Gln | |
| NM_001127511.2:c.3260G>A | NP_001120983.2:p.Arg1087Gln | |
| NM_001354895.1:c.3314G>A | NP_001341824.1:p.Arg1105Gln | |
| NM_001354896.1:c.3368G>A | NP_001341825.1:p.Arg1123Gln | |
| NM_001354897.1:c.3344G>A | NP_001341826.1:p.Arg1115Gln | |
| NM_001354898.1:c.3239G>A | NP_001341827.1:p.Arg1080Gln | |
| NM_001354899.1:c.3230G>A | NP_001341828.1:p.Arg1077Gln | |
| NM_001354900.1:c.3191G>A | NP_001341829.1:p.Arg1064Gln | |
| NM_001354901.1:c.3137G>A | NP_001341830.1:p.Arg1046Gln | |
| NM_001354902.1:c.3041G>A | NP_001341831.1:p.Arg1014Gln | |
| NM_001354903.1:c.3011G>A | NP_001341832.1:p.Arg1004Gln | |
| NM_001354904.1:c.2936G>A | NP_001341833.1:p.Arg979Gln | |
| NM_001354905.1:c.2834G>A | NP_001341834.1:p.Arg945Gln | |
| NM_001354906.1:c.2465G>A | NP_001341835.1:p.Arg822Gln | |
| NM_000038.6:c.3314G>A MANE Select | NP_000029.2:p.Arg1105Gln | |
| NM_001127510.3:c.3314G>A | NP_001120982.1:p.Arg1105Gln | |
| NM_001127511.3:c.3260G>A | NP_001120983.2:p.Arg1087Gln | |
| NM_001354895.2:c.3314G>A | NP_001341824.1:p.Arg1105Gln | |
| NM_001354896.2:c.3368G>A | NP_001341825.1:p.Arg1123Gln | |
| NM_001354897.2:c.3344G>A | NP_001341826.1:p.Arg1115Gln | |
| NM_001354898.2:c.3239G>A | NP_001341827.1:p.Arg1080Gln | |
| NM_001354899.2:c.3230G>A | NP_001341828.1:p.Arg1077Gln | |
| NM_001354900.2:c.3191G>A | NP_001341829.1:p.Arg1064Gln | |
| NM_001354901.2:c.3137G>A | NP_001341830.1:p.Arg1046Gln | |
| NM_001354902.2:c.3041G>A | NP_001341831.1:p.Arg1014Gln | |
| NM_001354903.2:c.3011G>A | NP_001341832.1:p.Arg1004Gln | |
| NM_001354904.2:c.2936G>A | NP_001341833.1:p.Arg979Gln | |
| NM_001354905.2:c.2834G>A | NP_001341834.1:p.Arg945Gln | |
| NM_001354906.2:c.2465G>A | NP_001341835.1:p.Arg822Gln |