Linked Data
ClinVar Variation Id:
218487
dbSNP Id:
rs114289907
ExAC:
1:237955364 A / G
gnomAD v2:
1-237955364-A-G
gnomAD v3:
1-237792064-A-G
gnomAD v4:
1-237792064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237792064A>G , CM000663.2:g.237792064A>G | GRCh38 |
| NC_000001.10:g.237955364A>G , CM000663.1:g.237955364A>G | GRCh37 |
| NC_000001.9:g.236021987A>G | NCBI36 |
| NG_008799.2:g.754663A>G | |
| NG_008799.3:g.754881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*4656-41A>G | ENSP00000499659.2:n.*4656-41A>G | |
| ENST00000659194.3:c.13546-41A>G | ENSP00000499653.3:n.13546-41A>G | |
| ENST00000660292.2:c.13585-41A>G | ENSP00000499787.2:n.13585-41A>G | |
| ENST00000659194.2:c.5735-41A>G | ||
| ENST00000366574.7:c.13564-41A>G MANE Select | ENSP00000355533.2:n.13564-41A>G | |
| ENST00000660292.1:c.3617-41A>G | ||
| ENST00000360064.7:c.13513-41A>G | ENSP00000353174.7:n.13513-41A>G | |
| ENST00000366574.6:c.13564-41A>G | ENSP00000355533.2:n.13564-41A>G | |
| ENST00000608590.5:n.75-41A>G | ||
| NM_001035.2:c.13564-41A>G | NP_001026.2:n.13564-41A>G | |
| XM_006711802.2:c.13618-41A>G | XP_006711865.1:n.13618-41A>G | |
| XM_006711803.2:c.13615-41A>G | XP_006711866.1:n.13615-41A>G | |
| XM_006711804.2:c.13594-41A>G | XP_006711867.1:n.13594-41A>G | |
| XM_006711805.2:c.13588-41A>G | XP_006711868.1:n.13588-41A>G | |
| XM_006711806.2:c.13582-41A>G | XP_006711869.1:n.13582-41A>G | |
| XM_006711807.2:c.13558-41A>G | XP_006711870.1:n.13558-41A>G | |
| XM_006711808.2:c.13381-41A>G | XP_006711871.1:n.13381-41A>G | |
| XM_006711810.2:c.13525-41A>G | XP_006711873.1:n.13525-41A>G | |
| XM_006711802.3:c.13618-41A>G | XP_006711865.1:n.13618-41A>G | |
| XM_006711803.3:c.13615-41A>G | XP_006711866.1:n.13615-41A>G | |
| XM_006711804.3:c.13594-41A>G | XP_006711867.1:n.13594-41A>G | |
| XM_006711805.3:c.13588-41A>G | XP_006711868.1:n.13588-41A>G | |
| XM_006711806.3:c.13582-41A>G | XP_006711869.1:n.13582-41A>G | |
| XM_006711807.3:c.13558-41A>G | XP_006711870.1:n.13558-41A>G | |
| XM_006711808.3:c.13381-41A>G | XP_006711871.1:n.13381-41A>G | |
| XM_006711810.3:c.13525-41A>G | XP_006711873.1:n.13525-41A>G | |
| XM_017002028.1:c.13597-41A>G | XP_016857517.1:n.13597-41A>G | |
| NM_001035.3:c.13564-41A>G MANE Select | NP_001026.2:n.13564-41A>G |