Linked Data
ClinVar Variation Id:
1583438
ClinVar RCV Id:
RCV002093634
dbSNP Id:
rs752712583
ExAC:
14:58934442 A / G
gnomAD v2:
14-58934442-A-G
gnomAD v3:
14-58467724-A-G
gnomAD v4:
14-58467724-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58467724A>G , CM000676.2:g.58467724A>G | GRCh38 |
| NC_000014.8:g.58934442A>G , CM000676.1:g.58934442A>G | GRCh37 |
| NC_000014.7:g.58004195A>G | NCBI36 |
| NG_051335.2:g.45340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.2000-11A>G | ENSP00000481936.1:n.2000-11A>G | |
| ENST00000650845.1:n.2801-11A>G | ||
| ENST00000650904.1:c.2255-11A>G | ENSP00000498606.1:n.2255-11A>G | |
| ENST00000651759.1:c.1004-11A>G | ENSP00000498415.1:n.1004-11A>G | |
| ENST00000651937.1:c.*336-11A>G | ENSP00000498785.1:n.*336-11A>G | |
| ENST00000652326.2:c.2255-11A>G MANE Select | ENSP00000498929.1:n.2255-11A>G | |
| ENST00000652414.1:c.359-11A>G | ENSP00000498397.1:n.359-11A>G | |
| ENST00000652732.1:c.*1821-11A>G | ENSP00000498799.1:n.*1821-11A>G | |
| ENST00000261244.9:c.2027-11A>G | ENSP00000261244.5:n.2027-11A>G | |
| ENST00000354386.10:c.2414-11A>G | ENSP00000346359.6:n.2414-11A>G | |
| ENST00000423743.7:c.2123-11A>G | ENSP00000399427.3:n.2123-11A>G | |
| ENST00000538571.6:n.1845-11A>G | ||
| ENST00000556134.5:c.2123-11A>G | ENSP00000452351.2:n.2123-11A>G | |
| ENST00000619416.4:c.2210-11A>G | ENSP00000478083.1:n.2210-11A>G | |
| ENST00000619722.4:c.2000-11A>G | ENSP00000481936.1:n.2000-11A>G | |
| NM_001244189.1:c.2414-11A>G | NP_001231118.1:n.2414-11A>G | |
| NM_001244190.1:c.2210-11A>G | NP_001231119.1:n.2210-11A>G | |
| NM_001244191.1:c.2000-11A>G | NP_001231120.1:n.2000-11A>G | |
| NM_001244192.1:c.2123-11A>G | NP_001231121.1:n.2123-11A>G | |
| NM_001244193.1:c.1835-11A>G | NP_001231122.1:n.1835-11A>G | |
| NM_014749.3:c.2027-11A>G | NP_055564.3:n.2027-11A>G | |
| NM_001329943.2:c.2255-11A>G | NP_001316872.1:n.2255-11A>G | |
| NM_001329944.1:c.2255-11A>G | NP_001316873.1:n.2255-11A>G | |
| NM_001329945.1:c.2000-11A>G | NP_001316874.1:n.2000-11A>G | |
| NM_001329946.1:c.2255-11A>G | NP_001316875.1:n.2255-11A>G | |
| NM_001329947.1:c.2255-11A>G | NP_001316876.1:n.2255-11A>G | |
| NM_001364700.1:c.2000-11A>G | NP_001351629.1:n.2000-11A>G | |
| NM_001364701.1:c.2000-11A>G | NP_001351630.1:n.2000-11A>G | |
| NM_014749.4:c.2027-11A>G | NP_055564.3:n.2027-11A>G | |
| XM_024449779.1:c.2378-11A>G | XP_024305547.1:n.2378-11A>G | |
| XM_024449780.1:c.2279-11A>G | XP_024305548.1:n.2279-11A>G | |
| XM_024449781.1:c.2378-11A>G | XP_024305549.1:n.2378-11A>G | |
| XM_024449782.1:c.2024-11A>G | XP_024305550.1:n.2024-11A>G | |
| XM_024449783.1:c.2024-11A>G | XP_024305551.1:n.2024-11A>G | |
| XM_024449784.1:c.2024-11A>G | XP_024305552.1:n.2024-11A>G | |
| XM_024449785.1:c.2000-11A>G | XP_024305553.1:n.2000-11A>G | |
| XM_024449787.1:c.1859-11A>G | XP_024305555.1:n.1859-11A>G | |
| XM_024449788.1:c.1835-11A>G | XP_024305556.1:n.1835-11A>G | |
| XM_024449789.1:c.1835-11A>G | XP_024305557.1:n.1835-11A>G | |
| XM_024449791.1:c.2279-11A>G | XP_024305559.1:n.2279-11A>G | |
| NM_001244189.2:c.2414-11A>G | NP_001231118.1:n.2414-11A>G | |
| NM_001244190.2:c.2210-11A>G | NP_001231119.1:n.2210-11A>G | |
| NM_001244192.2:c.2123-11A>G | NP_001231121.1:n.2123-11A>G | |
| NM_001329943.3:c.2255-11A>G MANE Select | NP_001316872.1:n.2255-11A>G | |
| NM_001329944.2:c.2255-11A>G | NP_001316873.1:n.2255-11A>G | |
| NM_001329945.2:c.2000-11A>G | NP_001316874.1:n.2000-11A>G | |
| NM_001329946.2:c.2255-11A>G | NP_001316875.1:n.2255-11A>G | |
| NM_001329947.2:c.2255-11A>G | NP_001316876.1:n.2255-11A>G | |
| NM_001364701.2:c.2000-11A>G | NP_001351630.1:n.2000-11A>G | |
| NM_014749.5:c.2027-11A>G | NP_055564.3:n.2027-11A>G | |
| NM_001244191.2:c.2000-11A>G | NP_001231120.1:n.2000-11A>G | |
| NM_001244193.2:c.1835-11A>G | NP_001231122.1:n.1835-11A>G |