Linked Data
ClinVar Variation Id:
1702984
ClinVar RCV Id:
RCV002279895
dbSNP Id:
rs2101932398
MutSpliceDB:
CA343640218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182385558T>C , CM000663.2:g.182385558T>C | GRCh38 |
| NC_000001.10:g.182354693T>C , CM000663.1:g.182354693T>C | GRCh37 |
| NC_000001.9:g.180621316T>C | NCBI36 |
| NG_013347.2:g.11649A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331872.11:c.604-2A>G MANE Select | ENSP00000356537.6:n.604-2A>G | |
| ENST00000642379.1:c.1006-2A>G | ENSP00000494022.1:n.1006-2A>G | |
| ENST00000311223.9:c.604-2A>G | ENSP00000307900.5:n.604-2A>G | |
| ENST00000331872.10:c.604-2A>G | ENSP00000356537.5:n.604-2A>G | |
| ENST00000339526.8:c.604-2A>G | ENSP00000344958.4:n.604-2A>G | |
| ENST00000417584.6:c.604-2A>G | ENSP00000398320.2:n.604-2A>G | |
| ENST00000461447.1:n.181-2A>G | ||
| ENST00000463851.6:n.212-2A>G | ||
| ENST00000484996.5:n.1216-2A>G | ||
| ENST00000491322.1:n.3468A>G | ||
| ENST00000621524.1:c.603-2A>G | ENSP00000481855.1:n.603-2A>G | |
| NM_001033044.3:c.604-2A>G | NP_001028216.1:n.604-2A>G | |
| NM_001033056.3:c.604-2A>G | NP_001028228.1:n.604-2A>G | |
| NM_002065.6:c.604-2A>G | NP_002056.2:n.604-2A>G | |
| XM_006711278.1:c.604-2A>G | XP_006711341.1:n.604-2A>G | |
| XM_006711278.2:c.604-2A>G | XP_006711341.1:n.604-2A>G | |
| NM_001033044.4:c.604-2A>G MANE Select | NP_001028216.1:n.604-2A>G | |
| NM_001033056.4:c.604-2A>G | NP_001028228.1:n.604-2A>G | |
| NM_002065.7:c.604-2A>G | NP_002056.2:n.604-2A>G |