Linked Data
ClinVar Variation Id:
11992
ClinVar RCV Id:
RCV000012772
dbSNP Id:
rs113993982
ExAC:
14:51378873 C / T
gnomAD v2:
14-51378873-C-T
gnomAD v3:
14-50912155-C-T
gnomAD v4:
14-50912155-C-T
COSMIC:
COSM6218364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50912155C>T , CM000676.2:g.50912155C>T | GRCh38 |
| NC_000014.8:g.51378873C>T , CM000676.1:g.51378873C>T | GRCh37 |
| NC_000014.7:g.50448623C>T | NCBI36 |
| NG_012796.1:g.37376G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.1768+1G>A MANE Select | ENSP00000216392.7:n.1768+1G>A | |
| ENST00000216392.7:c.1768+1G>A | ENSP00000216392.7:n.1768+1G>A | |
| ENST00000532462.5:c.1768+1G>A | ENSP00000431657.1:n.1768+1G>A | |
| ENST00000544180.6:c.1666+1G>A | ENSP00000443787.1:n.1666+1G>A | |
| NM_001163940.1:c.1666+1G>A | NP_001157412.1:n.1666+1G>A | |
| NM_002863.4:c.1768+1G>A | NP_002854.3:n.1768+1G>A | |
| NM_002863.5:c.1768+1G>A MANE Select | NP_002854.3:n.1768+1G>A | |
| NM_001163940.2:c.1666+1G>A | NP_001157412.1:n.1666+1G>A |