Linked Data
ClinVar Variation Id:
138954
dbSNP Id:
rs186326951
ExAC:
1:237875040 C / T
gnomAD v2:
1-237875040-C-T
gnomAD v3:
1-237711740-C-T
gnomAD v4:
1-237711740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237711740C>T , CM000663.2:g.237711740C>T | GRCh38 |
| NC_000001.10:g.237875040C>T , CM000663.1:g.237875040C>T | GRCh37 |
| NC_000001.9:g.235941663C>T | NCBI36 |
| NG_008799.2:g.674339C>T | |
| NG_008799.3:g.674557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*1266-5C>T | ENSP00000499659.2:n.*1266-5C>T | |
| ENST00000659194.3:c.10231-5C>T | ENSP00000499653.3:n.10231-5C>T | |
| ENST00000660292.2:c.10231-5C>T | ENSP00000499787.2:n.10231-5C>T | |
| ENST00000659194.2:c.2420-5C>T | ||
| ENST00000366574.7:c.10231-5C>T MANE Select | ENSP00000355533.2:n.10231-5C>T | |
| ENST00000659194.1:c.2420-5C>T | ||
| ENST00000660292.1:c.263-5C>T | ||
| ENST00000661330.1:c.38-5C>T | ||
| ENST00000360064.7:c.10183-5C>T | ENSP00000353174.7:n.10183-5C>T | |
| ENST00000366574.6:c.10231-5C>T | ENSP00000355533.2:n.10231-5C>T | |
| ENST00000609119.1:n.1369-5C>T | ||
| NM_001035.2:c.10231-5C>T | NP_001026.2:n.10231-5C>T | |
| XM_006711802.2:c.10261-5C>T | XP_006711865.1:n.10261-5C>T | |
| XM_006711803.2:c.10258-5C>T | XP_006711866.1:n.10258-5C>T | |
| XM_006711804.2:c.10261-5C>T | XP_006711867.1:n.10261-5C>T | |
| XM_006711805.2:c.10231-5C>T | XP_006711868.1:n.10231-5C>T | |
| XM_006711806.2:c.10261-5C>T | XP_006711869.1:n.10261-5C>T | |
| XM_006711807.2:c.10261-5C>T | XP_006711870.1:n.10261-5C>T | |
| XM_006711808.2:c.10024-5C>T | XP_006711871.1:n.10024-5C>T | |
| XM_006711810.2:c.10228-5C>T | XP_006711873.1:n.10228-5C>T | |
| XM_006711802.3:c.10261-5C>T | XP_006711865.1:n.10261-5C>T | |
| XM_006711803.3:c.10258-5C>T | XP_006711866.1:n.10258-5C>T | |
| XM_006711804.3:c.10261-5C>T | XP_006711867.1:n.10261-5C>T | |
| XM_006711805.3:c.10231-5C>T | XP_006711868.1:n.10231-5C>T | |
| XM_006711806.3:c.10261-5C>T | XP_006711869.1:n.10261-5C>T | |
| XM_006711807.3:c.10261-5C>T | XP_006711870.1:n.10261-5C>T | |
| XM_006711808.3:c.10024-5C>T | XP_006711871.1:n.10024-5C>T | |
| XM_006711810.3:c.10228-5C>T | XP_006711873.1:n.10228-5C>T | |
| XM_017002028.1:c.10240-5C>T | XP_016857517.1:n.10240-5C>T | |
| NM_001035.3:c.10231-5C>T MANE Select | NP_001026.2:n.10231-5C>T |