Linked Data
ClinVar Variation Id:
24775
ClinVar RCV Id:
RCV001203776
dbSNP Id:
rs587776404
PubMed:
PMID:8940267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694922G>A , CM000685.2:g.108694922G>A | GRCh38 |
| NC_000023.10:g.107938152G>A , CM000685.1:g.107938152G>A | GRCh37 |
| NC_000023.9:g.107824808G>A | NCBI36 |
| NG_011977.1:g.259999G>A | |
| NG_011977.2:g.259999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4821+1G>A MANE Select | ENSP00000331902.7:n.4821+1G>A | |
| ENST00000361603.7:c.4803+1G>A | ENSP00000354505.2:n.4803+1G>A | |
| ENST00000510690.2:n.1315+1G>A | ||
| ENST00000644079.1:n.1308G>A | ||
| ENST00000328300.10:c.4821+1G>A | ENSP00000331902.6:n.4821+1G>A | |
| ENST00000361603.6:c.4803+1G>A | ENSP00000354505.2:n.4803+1G>A | |
| ENST00000504541.1:c.219+1G>A | ENSP00000424845.1:n.219+1G>A | |
| ENST00000515658.1:c.325-1375G>A | ||
| NM_000495.4:c.4803+1G>A | NP_000486.1:n.4803+1G>A | |
| NM_033380.2:c.4821+1G>A | NP_203699.1:n.4821+1G>A | |
| XM_005262070.2:c.4812+1G>A | XP_005262127.1:n.4812+1G>A | |
| XM_006724616.2:c.4821+1G>A | XP_006724679.1:n.4821+1G>A | |
| XM_011530849.1:c.4497+1G>A | XP_011529151.1:n.4497+1G>A | |
| XM_011530851.1:c.2394+1G>A | XP_011529153.1:n.2394+1G>A | |
| XM_011530849.2:c.4836+1G>A | XP_011529151.2:n.4836+1G>A | |
| XM_017029259.2:c.4827+1G>A | XP_016884748.1:n.4827+1G>A | |
| XM_017029260.1:c.4818+1G>A | XP_016884749.1:n.4818+1G>A | |
| XM_017029263.2:c.3156+1G>A | XP_016884752.1:n.3156+1G>A | |
| NM_000495.5:c.4803+1G>A | NP_000486.1:n.4803+1G>A | |
| NM_033380.3:c.4821+1G>A MANE Select | NP_203699.1:n.4821+1G>A |