Linked Data
ClinVar Variation Id:
102557
dbSNP Id:
rs62509015
gnomAD v2:
12-103237423-C-G
gnomAD v4:
12-102843645-C-G
PubMed:
PMID:20187763
PMID:20920871
PMID:22333022
PMID:22526846
PMID:22763404
PMID:23074961
PMID:23856132
PMID:24301756
ERepo:
CA274088/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843645C>G , CM000674.2:g.102843645C>G | GRCh38 |
| NC_000012.11:g.103237423C>G , CM000674.1:g.103237423C>G | GRCh37 |
| NC_000012.10:g.101761553C>G | NCBI36 |
| NG_008690.1:g.78958G>C | |
| NG_008690.2:g.119766G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1199+1G>C MANE Select | ENSP00000448059.1:n.1199+1G>C | |
| ENST00000307000.7:c.1184+1G>C | ENSP00000303500.2:n.1184+1G>C | |
| ENST00000549247.6:n.958+1G>C | ||
| ENST00000551114.2:n.861+1G>C | ||
| ENST00000553106.5:c.1199+1G>C | ENSP00000448059.1:n.1199+1G>C | |
| ENST00000635477.1:c.303+1G>C | ||
| ENST00000635528.1:n.714+1G>C | ||
| NM_000277.1:c.1199+1G>C | NP_000268.1:n.1199+1G>C | |
| XM_011538422.1:c.1142+1G>C | XP_011536724.1:n.1142+1G>C | |
| NM_000277.2:c.1199+1G>C | NP_000268.1:n.1199+1G>C | |
| NM_001354304.1:c.1199+1G>C | NP_001341233.1:n.1199+1G>C | |
| NM_000277.3:c.1199+1G>C MANE Select | NP_000268.1:n.1199+1G>C | |
| NM_001354304.2:c.1199+1G>C | NP_001341233.1:n.1199+1G>C |