Linked Data
ClinVar Variation Id:
370074
ClinVar RCV Id:
RCV000410802
dbSNP Id:
rs5030861
ERepo:
CA16020993/MONDO:0009861/006
PubMed:
PMID:10598814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840399C>A , CM000674.2:g.102840399C>A | GRCh38 |
| NC_000012.11:g.103234177C>A , CM000674.1:g.103234177C>A | GRCh37 |
| NC_000012.10:g.101758307C>A | NCBI36 |
| NG_008690.1:g.82204G>T | |
| NG_008690.2:g.123012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1315+1G>T MANE Select | ENSP00000448059.1:n.1315+1G>T | |
| ENST00000307000.7:c.1300+1G>T | ENSP00000303500.2:n.1300+1G>T | |
| ENST00000551114.2:n.977+1G>T | ||
| ENST00000553106.5:c.1315+1G>T | ENSP00000448059.1:n.1315+1G>T | |
| ENST00000635477.1:c.419+1G>T | ||
| ENST00000635528.1:n.830+1G>T | ||
| NM_000277.1:c.1315+1G>T | NP_000268.1:n.1315+1G>T | |
| XM_011538422.1:c.1258+1G>T | XP_011536724.1:n.1258+1G>T | |
| NM_000277.2:c.1315+1G>T | NP_000268.1:n.1315+1G>T | |
| NM_001354304.1:c.1315+1G>T | NP_001341233.1:n.1315+1G>T | |
| NM_000277.3:c.1315+1G>T MANE Select | NP_000268.1:n.1315+1G>T | |
| NM_001354304.2:c.1315+1G>T | NP_001341233.1:n.1315+1G>T |