Linked Data
ClinVar Variation Id:
43785
dbSNP Id:
rs397516532
ExAC:
1:237758961 C / T
gnomAD v2:
1-237758961-C-T
gnomAD v3:
1-237595661-C-T
gnomAD v4:
1-237595661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237595661C>T , CM000663.2:g.237595661C>T | GRCh38 |
| NC_000001.10:g.237758961C>T , CM000663.1:g.237758961C>T | GRCh37 |
| NC_000001.9:g.235825584C>T | NCBI36 |
| NG_008799.2:g.558260C>T | |
| NG_008799.3:g.558478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.4596+4C>T | ENSP00000499659.2:n.4596+4C>T | |
| ENST00000659194.3:c.4596+4C>T | ENSP00000499653.3:n.4596+4C>T | |
| ENST00000660292.2:c.4596+4C>T | ENSP00000499787.2:n.4596+4C>T | |
| ENST00000366574.7:c.4596+4C>T MANE Select | ENSP00000355533.2:n.4596+4C>T | |
| ENST00000360064.7:c.4548+4C>T | ENSP00000353174.7:n.4548+4C>T | |
| ENST00000366574.6:c.4596+4C>T | ENSP00000355533.2:n.4596+4C>T | |
| NM_001035.2:c.4596+4C>T | NP_001026.2:n.4596+4C>T | |
| XM_006711802.2:c.4626+4C>T | XP_006711865.1:n.4626+4C>T | |
| XM_006711803.2:c.4623+4C>T | XP_006711866.1:n.4623+4C>T | |
| XM_006711804.2:c.4626+4C>T | XP_006711867.1:n.4626+4C>T | |
| XM_006711805.2:c.4596+4C>T | XP_006711868.1:n.4596+4C>T | |
| XM_006711806.2:c.4626+4C>T | XP_006711869.1:n.4626+4C>T | |
| XM_006711807.2:c.4626+4C>T | XP_006711870.1:n.4626+4C>T | |
| XM_006711808.2:c.4626+4C>T | XP_006711871.1:n.4626+4C>T | |
| XM_006711809.2:c.4626+4C>T | XP_006711872.1:n.4626+4C>T | |
| XM_006711810.2:c.4593+4C>T | XP_006711873.1:n.4593+4C>T | |
| XR_949152.1:n.4907+4C>T | ||
| XM_006711802.3:c.4626+4C>T | XP_006711865.1:n.4626+4C>T | |
| XM_006711803.3:c.4623+4C>T | XP_006711866.1:n.4623+4C>T | |
| XM_006711804.3:c.4626+4C>T | XP_006711867.1:n.4626+4C>T | |
| XM_006711805.3:c.4596+4C>T | XP_006711868.1:n.4596+4C>T | |
| XM_006711806.3:c.4626+4C>T | XP_006711869.1:n.4626+4C>T | |
| XM_006711807.3:c.4626+4C>T | XP_006711870.1:n.4626+4C>T | |
| XM_006711808.3:c.4626+4C>T | XP_006711871.1:n.4626+4C>T | |
| XM_006711810.3:c.4593+4C>T | XP_006711873.1:n.4593+4C>T | |
| XM_017002028.1:c.4605+4C>T | XP_016857517.1:n.4605+4C>T | |
| XR_002957299.1:n.4940+4C>T | ||
| XR_949152.2:n.4940+4C>T | ||
| NM_001035.3:c.4596+4C>T MANE Select | NP_001026.2:n.4596+4C>T |