Linked Data
ClinVar Variation Id:
2039749
ClinVar RCV Id:
RCV002900130
dbSNP Id:
rs773510377
ExAC:
12:116435049 A / G
gnomAD v2:
12-116435049-A-G
gnomAD v4:
12-115997244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997244A>G , CM000674.2:g.115997244A>G | GRCh38 |
| NC_000012.11:g.116435049A>G , CM000674.1:g.116435049A>G | GRCh37 |
| NC_000012.10:g.114919432A>G | NCBI36 |
| NG_023366.1:g.284943T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2570-14T>C MANE Select | ENSP00000281928.3:n.2570-14T>C | |
| ENST00000548743.2:c.2540-14T>C | ENSP00000448553.2:n.2540-14T>C | |
| ENST00000549786.2:c.1998-14T>C | ||
| ENST00000647927.1:n.2929T>C | ||
| ENST00000648173.1:n.1365-14T>C | ||
| ENST00000648379.1:n.938-14T>C | ||
| ENST00000648737.1:n.2334-14T>C | ||
| ENST00000648916.1:n.581-14T>C | ||
| ENST00000649607.1:c.757-17T>C | ||
| ENST00000650226.1:c.2570-14T>C | ENSP00000496981.1:n.2570-14T>C | |
| ENST00000281928.7:c.2570-14T>C | ENSP00000281928.3:n.2570-14T>C | |
| NM_015335.4:c.2570-14T>C | NP_056150.1:n.2570-14T>C | |
| XM_011538080.1:c.2570-14T>C | XP_011536382.1:n.2570-14T>C | |
| XM_011538081.1:c.2570-17T>C | XP_011536383.1:n.2570-17T>C | |
| XM_011538082.1:c.2540-14T>C | XP_011536384.1:n.2540-14T>C | |
| XM_011538080.2:c.2570-14T>C | XP_011536382.1:n.2570-14T>C | |
| XM_011538081.2:c.2570-17T>C | XP_011536383.1:n.2570-17T>C | |
| XM_011538082.2:c.2540-14T>C | XP_011536384.1:n.2540-14T>C | |
| XM_017019090.1:c.2570-17T>C | XP_016874579.1:n.2570-17T>C | |
| NM_015335.5:c.2570-14T>C MANE Select | NP_056150.1:n.2570-14T>C |