Linked Data
ClinVar Variation Id:
1244917
ClinVar RCV Id:
RCV001649125
dbSNP Id:
rs113490606
ExAC:
1:16351243 C / T
gnomAD v2:
1-16351243-C-T
gnomAD v3:
1-16024748-C-T
gnomAD v4:
1-16024748-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024748C>T , CM000663.2:g.16024748C>T | GRCh38 |
| NC_000001.10:g.16351243C>T , CM000663.1:g.16351243C>T | GRCh37 |
| NC_000001.9:g.16223830C>T | NCBI36 |
| NG_009359.1:g.7758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.230-15C>T MANE Select | ENSP00000332771.4:n.230-15C>T | |
| ENST00000331433.4:c.230-15C>T | ENSP00000332771.4:n.230-15C>T | |
| ENST00000375692.5:c.230-15C>T | ENSP00000364844.1:n.230-15C>T | |
| ENST00000439316.6:c.229+820C>T | ENSP00000414445.2:n.229+820C>T | |
| ENST00000464764.5:n.889-111C>T | ||
| ENST00000495784.1:n.388-15C>T | ||
| NM_001042704.1:c.230-15C>T | NP_001036169.1:n.230-15C>T | |
| NM_001257139.1:c.229+820C>T | NP_001244068.1:n.229+820C>T | |
| NM_004070.3:c.230-15C>T | NP_004061.3:n.230-15C>T | |
| NM_004070.4:c.230-15C>T MANE Select | NP_004061.3:n.230-15C>T | |
| NM_001042704.2:c.230-15C>T | NP_001036169.1:n.230-15C>T | |
| NM_001257139.2:c.229+820C>T | NP_001244068.1:n.229+820C>T |