Linked Data
ClinVar Variation Id:
224562
dbSNP Id:
rs753859240
ExAC:
17:41256879 A / G
gnomAD v2:
17-41256879-A-G
gnomAD v4:
17-43104862-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43104862A>G , CM000679.2:g.43104862A>G | GRCh38 |
| NC_000017.10:g.41256879A>G , CM000679.1:g.41256879A>G | GRCh37 |
| NC_000017.9:g.38510405A>G | NCBI36 |
| NG_005905.2:g.113122T>C , LRG_292:g.113122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.365+6T>C | ||
| ENST00000461574.2:c.301+6T>C | ENSP00000417241.2:n.301+6T>C | |
| ENST00000470026.6:c.301+6T>C | ENSP00000419274.2:n.301+6T>C | |
| ENST00000473961.6:c.301+6T>C | ENSP00000420201.2:n.301+6T>C | |
| ENST00000476777.6:c.301+6T>C | ENSP00000417554.2:n.301+6T>C | |
| ENST00000477152.6:c.223+6T>C | ENSP00000419988.2:n.223+6T>C | |
| ENST00000478531.6:c.301+6T>C | ENSP00000420412.2:n.301+6T>C | |
| ENST00000489037.2:c.223+6T>C | ENSP00000420781.2:n.223+6T>C | |
| ENST00000493919.6:c.160+6T>C | ENSP00000418819.2:n.160+6T>C | |
| ENST00000494123.6:c.301+6T>C | ENSP00000419103.2:n.301+6T>C | |
| ENST00000497488.2:c.-218-10002T>C | ENSP00000418986.2:n.-218-10002T>C | |
| ENST00000618469.2:c.301+6T>C | ENSP00000478114.2:n.301+6T>C | |
| ENST00000634433.2:c.301+6T>C | ENSP00000489431.2:n.301+6T>C | |
| ENST00000644379.2:c.301+6T>C | ENSP00000496570.2:n.301+6T>C | |
| ENST00000644555.2:c.160+6T>C | ENSP00000494614.2:n.160+6T>C | |
| ENST00000652672.2:c.160+6T>C | ENSP00000498906.2:n.160+6T>C | |
| ENST00000484087.6:c.301+6T>C | ENSP00000419481.2:n.301+6T>C | |
| ENST00000700083.1:n.1272+6T>C | ||
| ENST00000700182.1:c.223+6T>C | ENSP00000514849.1:n.223+6T>C | |
| ENST00000700183.1:c.*215+6T>C | ENSP00000514850.1:n.*215+6T>C | |
| ENST00000700184.1:n.544+6T>C | ||
| ENST00000357654.9:c.301+6T>C MANE Select | ENSP00000350283.3:n.301+6T>C | |
| ENST00000471181.7:c.301+6T>C | ENSP00000418960.2:n.301+6T>C | |
| ENST00000642945.1:c.*175+6T>C | ENSP00000495897.1:n.*175+6T>C | |
| ENST00000644555.1:c.160+6T>C | ENSP00000494614.1:n.160+6T>C | |
| ENST00000652672.1:c.160+6T>C | ENSP00000498906.1:n.160+6T>C | |
| ENST00000352993.7:c.301+6T>C | ENSP00000312236.5:n.301+6T>C | |
| ENST00000354071.7:c.301+6T>C | ENSP00000326002.7:n.301+6T>C | |
| ENST00000357654.7:c.301+6T>C | ENSP00000350283.3:n.301+6T>C | |
| ENST00000461221.5:c.*87+6T>C | ENSP00000418548.1:n.*87+6T>C | |
| ENST00000461798.5:c.*87+6T>C | ENSP00000417988.1:n.*87+6T>C | |
| ENST00000468300.5:c.301+6T>C | ENSP00000417148.1:n.301+6T>C | |
| ENST00000470026.5:c.301+6T>C | ENSP00000419274.1:n.301+6T>C | |
| ENST00000471181.6:c.301+6T>C | ENSP00000418960.2:n.301+6T>C | |
| ENST00000473961.5:c.24+6T>C | ||
| ENST00000476777.5:c.301+6T>C | ENSP00000417554.1:n.301+6T>C | |
| ENST00000477152.5:c.223+6T>C | ENSP00000419988.1:n.223+6T>C | |
| ENST00000478531.5:c.301+6T>C | ENSP00000420412.1:n.301+6T>C | |
| ENST00000484087.5:c.49+6T>C | ENSP00000419481.1:n.49+6T>C | |
| ENST00000487825.5:c.49+6T>C | ENSP00000418212.1:n.49+6T>C | |
| ENST00000489037.1:c.223+6T>C | ENSP00000420781.1:n.223+6T>C | |
| ENST00000491747.6:c.301+6T>C | ENSP00000420705.2:n.301+6T>C | |
| ENST00000492859.5:c.*237+6T>C | ENSP00000420253.1:n.*237+6T>C | |
| ENST00000493795.5:c.160+6T>C | ENSP00000418775.1:n.160+6T>C | |
| ENST00000493919.5:c.160+6T>C | ENSP00000418819.1:n.160+6T>C | |
| ENST00000494123.5:c.301+6T>C | ENSP00000419103.1:n.301+6T>C | |
| ENST00000497488.1:c.-218-10002T>C | ENSP00000418986.1:n.-218-10002T>C | |
| ENST00000586385.5:c.4+20320T>C | ENSP00000465818.1:n.4+20320T>C | |
| ENST00000591534.5:c.-44+20409T>C | ENSP00000467329.1:n.-44+20409T>C | |
| ENST00000591849.5:c.-99+20409T>C | ENSP00000465347.1:n.-99+20409T>C | |
| ENST00000634433.1:c.301+6T>C | ENSP00000489431.1:n.301+6T>C | |
| NM_007294.3:c.301+6T>C , LRG_292t1:c.301+6T>C | NP_009225.1:n.301+6T>C | |
| NM_007297.3:c.160+6T>C | NP_009228.2:n.160+6T>C | |
| NM_007298.3:c.301+6T>C | NP_009229.2:n.301+6T>C | |
| NM_007299.3:c.301+6T>C | NP_009230.2:n.301+6T>C | |
| NM_007300.3:c.301+6T>C | NP_009231.2:n.301+6T>C | |
| NR_027676.1:n.440+6T>C | ||
| NM_007294.4:c.301+6T>C MANE Select | NP_009225.1:n.301+6T>C | |
| NM_007297.4:c.160+6T>C | NP_009228.2:n.160+6T>C | |
| NM_007299.4:c.301+6T>C | NP_009230.2:n.301+6T>C | |
| NM_007300.4:c.301+6T>C | NP_009231.2:n.301+6T>C | |
| NR_027676.2:n.481+6T>C |