Linked Data
ClinVar Variation Id:
541072
dbSNP Id:
rs148989517
ExAC:
1:201010719 T / C
gnomAD v2:
1-201010719-T-C
gnomAD v3:
1-201041591-T-C
gnomAD v4:
1-201041591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201041591T>C , CM000663.2:g.201041591T>C | GRCh38 |
| NC_000001.10:g.201010719T>C , CM000663.1:g.201010719T>C | GRCh37 |
| NC_000001.9:g.199277342T>C | NCBI36 |
| NG_009816.1:g.75976A>G | |
| NG_009816.2:g.75976A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362061.4:c.5049-2A>G MANE Select | ENSP00000355192.3:n.5049-2A>G | |
| ENST00000679417.1:c.*4212-2A>G | ENSP00000506706.1:n.*4212-2A>G | |
| ENST00000680059.1:c.*2567-2A>G | ENSP00000504944.1:n.*2567-2A>G | |
| ENST00000681078.1:c.*824-2A>G | ENSP00000506645.1:n.*824-2A>G | |
| ENST00000681190.1:c.*1231-2A>G | ENSP00000506428.1:n.*1231-2A>G | |
| ENST00000681874.1:c.4989-2A>G | ENSP00000505162.1:n.4989-2A>G | |
| ENST00000362061.3:c.5049-2A>G | ENSP00000355192.3:n.5049-2A>G | |
| ENST00000367338.7:c.4992-2A>G | ENSP00000356307.3:n.4992-2A>G | |
| NM_000069.2:c.5049-2A>G | NP_000060.2:n.5049-2A>G | |
| XM_005245478.2:c.4992-2A>G | XP_005245535.1:n.4992-2A>G | |
| XR_241170.3:n.1465-264T>C | ||
| XR_922405.1:n.2003-264T>C | ||
| XR_922406.1:n.2281-264T>C | ||
| XR_922407.1:n.2191-264T>C | ||
| XR_922408.1:n.1369-264T>C | ||
| XR_922409.1:n.1984-264T>C | ||
| XR_922410.1:n.1391-264T>C | ||
| XR_922411.1:n.1983-264T>C | ||
| XR_922412.1:n.2197-264T>C | ||
| XR_922413.1:n.2093-264T>C | ||
| XR_922414.1:n.1300-264T>C | ||
| XR_922415.1:n.1869-264T>C | ||
| XR_922416.1:n.1309-264T>C | ||
| XR_922417.1:n.1887-264T>C | ||
| XR_922418.1:n.1821-264T>C | ||
| XR_922419.1:n.1215-264T>C | ||
| XR_922420.1:n.1687-264T>C | ||
| XM_005245478.3:c.4992-2A>G | XP_005245535.1:n.4992-2A>G | |
| XR_001738364.1:n.1652-264T>C | ||
| XR_001738365.1:n.1562-264T>C | ||
| XR_001738366.1:n.1355-264T>C | ||
| XR_001738367.1:n.1568-264T>C | ||
| XR_001738368.1:n.1464-264T>C | ||
| XR_001738369.1:n.1240-264T>C | ||
| XR_001738370.1:n.1192-264T>C | ||
| XR_001738371.1:n.586-264T>C | ||
| XR_001738372.1:n.1058-264T>C | ||
| XR_922405.3:n.2113-264T>C | ||
| XR_922407.3:n.2301-264T>C | ||
| XR_922408.2:n.1374-264T>C | ||
| XR_922410.2:n.1383-264T>C | ||
| XR_922414.2:n.1292-264T>C | ||
| XR_922416.2:n.1301-264T>C | ||
| XR_922417.3:n.1997-264T>C | ||
| NM_000069.3:c.5049-2A>G MANE Select | NP_000060.2:n.5049-2A>G |