Linked Data
ClinVar Variation Id:
2053293
dbSNP Id:
rs1444337902
gnomAD v2:
1-237841389-C-A
gnomAD v4:
1-237678089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237678089C>A , CM000663.2:g.237678089C>A | GRCh38 |
| NC_000001.10:g.237841389C>A , CM000663.1:g.237841389C>A | GRCh37 |
| NC_000001.9:g.235908012C>A | NCBI36 |
| NG_008799.2:g.640688C>A | |
| NG_008799.3:g.640906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.8831-2367C>A | ENSP00000499659.2:n.8831-2367C>A | |
| ENST00000659194.3:c.8872C>A | ENSP00000499653.3:p.Gln2958Lys | |
| ENST00000660292.2:c.8872C>A | ENSP00000499787.2:p.Gln2958Lys | |
| ENST00000659194.2:c.1061C>A | ||
| ENST00000366574.7:c.8872C>A MANE Select | ENSP00000355533.2:p.Gln2958Lys | |
| ENST00000659194.1:c.1061C>A | ||
| ENST00000360064.7:c.8824C>A | ENSP00000353174.7:p.Gln2942Lys | |
| ENST00000366574.6:c.8872C>A | ENSP00000355533.2:p.Gln2958Lys | |
| ENST00000609119.1:n.84-2367C>A | ||
| NM_001035.2:c.8872C>A | NP_001026.2:p.Gln2958Lys | |
| XM_006711802.2:c.8902C>A | XP_006711865.1:p.Gln2968Lys | |
| XM_006711803.2:c.8899C>A | XP_006711866.1:p.Gln2967Lys | |
| XM_006711804.2:c.8902C>A | XP_006711867.1:p.Gln2968Lys | |
| XM_006711805.2:c.8872C>A | XP_006711868.1:p.Gln2958Lys | |
| XM_006711806.2:c.8902C>A | XP_006711869.1:p.Gln2968Lys | |
| XM_006711807.2:c.8902C>A | XP_006711870.1:p.Gln2968Lys | |
| XM_006711808.2:c.8860+3243C>A | XP_006711871.1:n.8860+3243C>A | |
| XM_006711810.2:c.8869C>A | XP_006711873.1:p.Gln2957Lys | |
| XR_949152.1:n.9183C>A | ||
| XM_006711802.3:c.8902C>A | XP_006711865.1:p.Gln2968Lys | |
| XM_006711803.3:c.8899C>A | XP_006711866.1:p.Gln2967Lys | |
| XM_006711804.3:c.8902C>A | XP_006711867.1:p.Gln2968Lys | |
| XM_006711805.3:c.8872C>A | XP_006711868.1:p.Gln2958Lys | |
| XM_006711806.3:c.8902C>A | XP_006711869.1:p.Gln2968Lys | |
| XM_006711807.3:c.8902C>A | XP_006711870.1:p.Gln2968Lys | |
| XM_006711808.3:c.8860+3243C>A | XP_006711871.1:n.8860+3243C>A | |
| XM_006711810.3:c.8869C>A | XP_006711873.1:p.Gln2957Lys | |
| XM_017002028.1:c.8881C>A | XP_016857517.1:p.Gln2961Lys | |
| XR_949152.2:n.9216C>A | ||
| NM_001035.3:c.8872C>A MANE Select | NP_001026.2:p.Gln2958Lys |