Linked Data
ClinVar Variation Id:
411340
dbSNP Id:
rs1060503260
gnomAD v2:
5-112174869-A-G
gnomAD v4:
5-112839172-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839172A>G , CM000667.2:g.112839172A>G | GRCh38 |
| NC_000005.9:g.112174869A>G , CM000667.1:g.112174869A>G | GRCh37 |
| NC_000005.8:g.112202768A>G | NCBI36 |
| NG_008481.4:g.151652A>G , LRG_130:g.151652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3243A>G | ENSP00000484935.2:n.3243A>G | |
| ENST00000504915.3:c.3632A>G | ENSP00000473355.2:p.Gln1211Arg | |
| ENST00000505350.2:c.*3584A>G | ENSP00000481752.1:n.*3584A>G | |
| ENST00000507379.6:c.3524A>G | ENSP00000423224.2:p.Gln1175Arg | |
| ENST00000509732.6:c.3578A>G | ENSP00000426541.2:p.Gln1193Arg | |
| ENST00000512211.7:c.3578A>G | ENSP00000423828.3:p.Gln1193Arg | |
| ENST00000257430.9:c.3578A>G MANE Select | ENSP00000257430.4:p.Gln1193Arg | |
| ENST00000257430.8:c.3578A>G | ENSP00000257430.4:p.Gln1193Arg | |
| ENST00000502371.2:c.1931A>G | ||
| ENST00000508376.6:c.3578A>G | ENSP00000427089.2:p.Gln1193Arg | |
| ENST00000508624.5:c.*2900A>G | ENSP00000424265.1:n.*2900A>G | |
| ENST00000512211.6:c.3578A>G | ENSP00000423828.2:p.Gln1193Arg | |
| ENST00000520401.1:c.230+10200A>G | ||
| NM_000038.5:c.3578A>G | NP_000029.2:p.Gln1193Arg | |
| NM_001127510.2:c.3578A>G | NP_001120982.1:p.Gln1193Arg | |
| NM_001127511.2:c.3524A>G | NP_001120983.2:p.Gln1175Arg | |
| NM_001354895.1:c.3578A>G | NP_001341824.1:p.Gln1193Arg | |
| NM_001354896.1:c.3632A>G | NP_001341825.1:p.Gln1211Arg | |
| NM_001354897.1:c.3608A>G | NP_001341826.1:p.Gln1203Arg | |
| NM_001354898.1:c.3503A>G | NP_001341827.1:p.Gln1168Arg | |
| NM_001354899.1:c.3494A>G | NP_001341828.1:p.Gln1165Arg | |
| NM_001354900.1:c.3455A>G | NP_001341829.1:p.Gln1152Arg | |
| NM_001354901.1:c.3401A>G | NP_001341830.1:p.Gln1134Arg | |
| NM_001354902.1:c.3305A>G | NP_001341831.1:p.Gln1102Arg | |
| NM_001354903.1:c.3275A>G | NP_001341832.1:p.Gln1092Arg | |
| NM_001354904.1:c.3200A>G | NP_001341833.1:p.Gln1067Arg | |
| NM_001354905.1:c.3098A>G | NP_001341834.1:p.Gln1033Arg | |
| NM_001354906.1:c.2729A>G | NP_001341835.1:p.Gln910Arg | |
| NM_000038.6:c.3578A>G MANE Select | NP_000029.2:p.Gln1193Arg | |
| NM_001127510.3:c.3578A>G | NP_001120982.1:p.Gln1193Arg | |
| NM_001127511.3:c.3524A>G | NP_001120983.2:p.Gln1175Arg | |
| NM_001354895.2:c.3578A>G | NP_001341824.1:p.Gln1193Arg | |
| NM_001354896.2:c.3632A>G | NP_001341825.1:p.Gln1211Arg | |
| NM_001354897.2:c.3608A>G | NP_001341826.1:p.Gln1203Arg | |
| NM_001354898.2:c.3503A>G | NP_001341827.1:p.Gln1168Arg | |
| NM_001354899.2:c.3494A>G | NP_001341828.1:p.Gln1165Arg | |
| NM_001354900.2:c.3455A>G | NP_001341829.1:p.Gln1152Arg | |
| NM_001354901.2:c.3401A>G | NP_001341830.1:p.Gln1134Arg | |
| NM_001354902.2:c.3305A>G | NP_001341831.1:p.Gln1102Arg | |
| NM_001354903.2:c.3275A>G | NP_001341832.1:p.Gln1092Arg | |
| NM_001354904.2:c.3200A>G | NP_001341833.1:p.Gln1067Arg | |
| NM_001354905.2:c.3098A>G | NP_001341834.1:p.Gln1033Arg | |
| NM_001354906.2:c.2729A>G | NP_001341835.1:p.Gln910Arg |