Linked Data
ClinVar Variation Id:
43698
ClinVar RCV Id:
RCV000036649
RCV000202863
RCV000246904
RCV000768787
RCV001097852
RCV001528231
RCV004534774
dbSNP Id:
rs72751287
ExAC:
1:237880494 A / G
gnomAD v2:
1-237880494-A-G
gnomAD v3:
1-237717194-A-G
gnomAD v4:
1-237717194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237717194A>G , CM000663.2:g.237717194A>G | GRCh38 |
| NC_000001.10:g.237880494A>G , CM000663.1:g.237880494A>G | GRCh37 |
| NC_000001.9:g.235947117A>G | NCBI36 |
| NG_008799.2:g.679793A>G | |
| NG_008799.3:g.680011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*1359-4A>G | ENSP00000499659.2:n.*1359-4A>G | |
| ENST00000659194.3:c.10324-4A>G | ENSP00000499653.3:n.10324-4A>G | |
| ENST00000660292.2:c.10324-4A>G | ENSP00000499787.2:n.10324-4A>G | |
| ENST00000659194.2:c.2513-4A>G | ||
| ENST00000366574.7:c.10324-4A>G MANE Select | ENSP00000355533.2:n.10324-4A>G | |
| ENST00000659194.1:c.2513-4A>G | ||
| ENST00000660292.1:c.356-4A>G | ||
| ENST00000661330.1:c.131-4A>G | ||
| ENST00000360064.7:c.10276-4A>G | ENSP00000353174.7:n.10276-4A>G | |
| ENST00000366574.6:c.10324-4A>G | ENSP00000355533.2:n.10324-4A>G | |
| ENST00000609119.1:n.1462-4A>G | ||
| NM_001035.2:c.10324-4A>G | NP_001026.2:n.10324-4A>G | |
| XM_006711802.2:c.10354-4A>G | XP_006711865.1:n.10354-4A>G | |
| XM_006711803.2:c.10351-4A>G | XP_006711866.1:n.10351-4A>G | |
| XM_006711804.2:c.10354-4A>G | XP_006711867.1:n.10354-4A>G | |
| XM_006711805.2:c.10324-4A>G | XP_006711868.1:n.10324-4A>G | |
| XM_006711806.2:c.10354-4A>G | XP_006711869.1:n.10354-4A>G | |
| XM_006711807.2:c.10354-4A>G | XP_006711870.1:n.10354-4A>G | |
| XM_006711808.2:c.10117-4A>G | XP_006711871.1:n.10117-4A>G | |
| XM_006711810.2:c.10321-4A>G | XP_006711873.1:n.10321-4A>G | |
| XM_006711802.3:c.10354-4A>G | XP_006711865.1:n.10354-4A>G | |
| XM_006711803.3:c.10351-4A>G | XP_006711866.1:n.10351-4A>G | |
| XM_006711804.3:c.10354-4A>G | XP_006711867.1:n.10354-4A>G | |
| XM_006711805.3:c.10324-4A>G | XP_006711868.1:n.10324-4A>G | |
| XM_006711806.3:c.10354-4A>G | XP_006711869.1:n.10354-4A>G | |
| XM_006711807.3:c.10354-4A>G | XP_006711870.1:n.10354-4A>G | |
| XM_006711808.3:c.10117-4A>G | XP_006711871.1:n.10117-4A>G | |
| XM_006711810.3:c.10321-4A>G | XP_006711873.1:n.10321-4A>G | |
| XM_017002028.1:c.10333-4A>G | XP_016857517.1:n.10333-4A>G | |
| NM_001035.3:c.10324-4A>G MANE Select | NP_001026.2:n.10324-4A>G |