Linked Data
ClinVar Variation Id:
1530582
ClinVar RCV Id:
RCV002089769
dbSNP Id:
rs753873119
ExAC:
12:8242779 C / T
gnomAD v2:
12-8242779-C-T
gnomAD v3:
12-8090183-C-T
gnomAD v4:
12-8090183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8090183C>T , CM000674.2:g.8090183C>T | GRCh38 |
| NC_000012.11:g.8242779C>T , CM000674.1:g.8242779C>T | GRCh37 |
| NC_000012.10:g.8134046C>T | NCBI36 |
| NG_034155.1:g.12973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339754.11:c.197-12C>T MANE Select | ENSP00000341737.5:n.197-12C>T | |
| ENST00000537796.2:n.206-12C>T | ||
| ENST00000541948.2:c.197-12C>T | ENSP00000440658.2:n.197-12C>T | |
| ENST00000542095.6:n.231-12C>T | ||
| ENST00000544891.6:n.206-12C>T | ||
| ENST00000545807.6:n.324C>T | ||
| ENST00000546181.2:n.404C>T | ||
| ENST00000638237.1:c.197-12C>T | ENSP00000492254.1:n.197-12C>T | |
| ENST00000638787.1:c.197-12C>T | ENSP00000491384.1:n.197-12C>T | |
| ENST00000638883.1:n.195-12C>T | ||
| ENST00000639038.1:c.197-12C>T | ENSP00000492452.1:n.197-12C>T | |
| ENST00000639071.1:n.212-12C>T | ||
| ENST00000639167.1:c.96-2493C>T | ENSP00000490999.1:n.96-2493C>T | |
| ENST00000639276.1:n.364C>T | ||
| ENST00000639595.1:c.197-12C>T | ENSP00000492560.1:n.197-12C>T | |
| ENST00000639811.1:c.197-12C>T | ENSP00000492554.1:n.197-12C>T | |
| ENST00000639955.1:c.197-12C>T | ENSP00000491067.1:n.197-12C>T | |
| ENST00000640072.1:n.1148-12C>T | ||
| ENST00000640099.1:n.209-12C>T | ||
| ENST00000640209.1:c.197-12C>T | ENSP00000492613.1:n.197-12C>T | |
| ENST00000640481.1:n.186-12C>T | ||
| ENST00000640648.1:n.591-12C>T | ||
| ENST00000339754.9:c.197-12C>T | ENSP00000341737.5:n.197-12C>T | |
| ENST00000450991.6:c.197-12C>T | ENSP00000401963.2:n.197-12C>T | |
| ENST00000540083.1:c.-230-12C>T | ENSP00000439319.1:n.-230-12C>T | |
| ENST00000541948.1:c.197-12C>T | ENSP00000440658.1:n.197-12C>T | |
| ENST00000542095.5:n.231-12C>T | ||
| ENST00000544891.5:n.216-12C>T | ||
| ENST00000545807.5:n.364C>T | ||
| ENST00000546181.1:n.404C>T | ||
| NM_015509.3:c.197-12C>T | NP_056324.2:n.197-12C>T | |
| NR_024260.1:n.275-12C>T | ||
| NM_015509.4:c.197-12C>T MANE Select | NP_056324.2:n.197-12C>T | |
| NR_024260.2:n.212-12C>T |