Linked Data
ClinVar Variation Id:
1537491
ClinVar RCV Id:
RCV002092695
dbSNP Id:
rs754665414
ExAC:
4:119659404 T / C
gnomAD v2:
4-119659404-T-C
gnomAD v3:
4-118738249-T-C
gnomAD v4:
4-118738249-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118738249T>C , CM000666.2:g.118738249T>C | GRCh38 |
| NC_000004.11:g.119659404T>C , CM000666.1:g.119659404T>C | GRCh37 |
| NC_000004.10:g.119878852T>C | NCBI36 |
| NG_042032.1:g.102923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2496+12A>G MANE Select | ENSP00000280551.6:n.2496+12A>G | |
| ENST00000280551.10:c.2496+12A>G | ENSP00000280551.6:n.2496+12A>G | |
| ENST00000419654.6:c.1164+12A>G | ENSP00000388324.2:n.1164+12A>G | |
| ENST00000502526.1:n.206A>G | ||
| ENST00000505134.5:n.1784+12A>G | ||
| ENST00000511481.5:c.1389+12A>G | ENSP00000425491.1:n.1389+12A>G | |
| ENST00000514561.5:c.*2903+12A>G | ENSP00000422717.1:n.*2903+12A>G | |
| NM_014822.2:c.2496+12A>G | NP_055637.2:n.2496+12A>G | |
| XM_005263378.1:c.2499+12A>G | XP_005263435.1:n.2499+12A>G | |
| XM_005263379.1:c.2499+12A>G | XP_005263436.1:n.2499+12A>G | |
| XM_011532435.1:c.2499+12A>G | XP_011530737.1:n.2499+12A>G | |
| XM_011532436.1:c.2499+12A>G | XP_011530738.1:n.2499+12A>G | |
| XM_011532437.1:c.1164+12A>G | XP_011530739.1:n.1164+12A>G | |
| NM_001318066.1:c.2499+12A>G | NP_001304995.1:n.2499+12A>G | |
| NM_014822.3:c.2496+12A>G | NP_055637.2:n.2496+12A>G | |
| XM_005263379.3:c.2499+12A>G | XP_005263436.1:n.2499+12A>G | |
| XM_017008875.1:c.1164+12A>G | XP_016864364.1:n.1164+12A>G | |
| XM_024454293.1:c.2496+12A>G | XP_024310061.1:n.2496+12A>G | |
| NM_014822.4:c.2496+12A>G MANE Select | NP_055637.2:n.2496+12A>G | |
| NM_001318066.2:c.2499+12A>G | NP_001304995.1:n.2499+12A>G |