Linked Data
ClinVar Variation Id:
102565
dbSNP Id:
rs62507261
gnomAD v2:
12-103234301-C-T
gnomAD v4:
12-102840523-C-T
COSMIC:
COSM5216721
ERepo:
CA229395/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840523C>T , CM000674.2:g.102840523C>T | GRCh38 |
| NC_000012.11:g.103234301C>T , CM000674.1:g.103234301C>T | GRCh37 |
| NC_000012.10:g.101758431C>T | NCBI36 |
| NG_008690.1:g.82080G>A | |
| NG_008690.2:g.122888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1200-8G>A MANE Select | ENSP00000448059.1:n.1200-8G>A | |
| ENST00000307000.7:c.1185-8G>A | ENSP00000303500.2:n.1185-8G>A | |
| ENST00000549247.6:n.959-8G>A | ||
| ENST00000551114.2:n.862-8G>A | ||
| ENST00000553106.5:c.1200-8G>A | ENSP00000448059.1:n.1200-8G>A | |
| ENST00000635477.1:c.304-8G>A | ||
| ENST00000635528.1:n.715-8G>A | ||
| NM_000277.1:c.1200-8G>A | NP_000268.1:n.1200-8G>A | |
| XM_011538422.1:c.1143-8G>A | XP_011536724.1:n.1143-8G>A | |
| NM_000277.2:c.1200-8G>A | NP_000268.1:n.1200-8G>A | |
| NM_001354304.1:c.1200-8G>A | NP_001341233.1:n.1200-8G>A | |
| NM_000277.3:c.1200-8G>A MANE Select | NP_000268.1:n.1200-8G>A | |
| NM_001354304.2:c.1200-8G>A | NP_001341233.1:n.1200-8G>A |