Linked Data
ClinVar Variation Id:
1701878
ClinVar RCV Id:
RCV002277682
dbSNP Id:
rs2137331044
gnomAD v4:
12-115997231-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997231C>A , CM000674.2:g.115997231C>A | GRCh38 |
| NC_000012.11:g.116435036C>A , CM000674.1:g.116435036C>A | GRCh37 |
| NC_000012.10:g.114919419C>A | NCBI36 |
| NG_023366.1:g.284956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2570-1G>T MANE Select | ENSP00000281928.3:n.2570-1G>T | |
| ENST00000548743.2:c.2540-1G>T | ENSP00000448553.2:n.2540-1G>T | |
| ENST00000549786.2:c.1998-1G>T | ||
| ENST00000647927.1:n.2942G>T | ||
| ENST00000648173.1:n.1365-1G>T | ||
| ENST00000648379.1:n.938-1G>T | ||
| ENST00000648737.1:n.2334-1G>T | ||
| ENST00000648916.1:n.581-1G>T | ||
| ENST00000649607.1:c.757-4G>T | ||
| ENST00000650226.1:c.2570-1G>T | ENSP00000496981.1:n.2570-1G>T | |
| ENST00000281928.7:c.2570-1G>T | ENSP00000281928.3:n.2570-1G>T | |
| NM_015335.4:c.2570-1G>T | NP_056150.1:n.2570-1G>T | |
| XM_011538080.1:c.2570-1G>T | XP_011536382.1:n.2570-1G>T | |
| XM_011538081.1:c.2570-4G>T | XP_011536383.1:n.2570-4G>T | |
| XM_011538082.1:c.2540-1G>T | XP_011536384.1:n.2540-1G>T | |
| XM_011538080.2:c.2570-1G>T | XP_011536382.1:n.2570-1G>T | |
| XM_011538081.2:c.2570-4G>T | XP_011536383.1:n.2570-4G>T | |
| XM_011538082.2:c.2540-1G>T | XP_011536384.1:n.2540-1G>T | |
| XM_017019090.1:c.2570-4G>T | XP_016874579.1:n.2570-4G>T | |
| NM_015335.5:c.2570-1G>T MANE Select | NP_056150.1:n.2570-1G>T |