Linked Data
ClinVar Variation Id:
1384176
ClinVar RCV Id:
RCV001895806
dbSNP Id:
rs942084685
gnomAD v2:
1-2340311-G-A
gnomAD v4:
1-2408872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408872G>A , CM000663.2:g.2408872G>A | GRCh38 |
| NC_000001.10:g.2340311G>A , CM000663.1:g.2340311G>A | GRCh37 |
| NC_000001.9:g.2330171G>A | NCBI36 |
| NG_008342.1:g.8700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.194-14C>T | ENSP00000288774.3:n.194-14C>T | |
| ENST00000447513.7:c.194-14C>T MANE Select | ENSP00000407922.2:n.194-14C>T | |
| ENST00000650293.1:c.148-14C>T | ||
| ENST00000288774.7:c.194-14C>T | ENSP00000288774.3:n.194-14C>T | |
| ENST00000447513.6:c.194-14C>T | ENSP00000407922.2:n.194-14C>T | |
| ENST00000502666.1:c.399-14C>T | ENSP00000461951.1:n.399-14C>T | |
| ENST00000507596.5:c.194-14C>T | ENSP00000424291.1:n.194-14C>T | |
| ENST00000508384.5:c.-239-14C>T | ENSP00000464289.1:n.-239-14C>T | |
| ENST00000510434.1:c.194-14C>T | ENSP00000423051.1:n.194-14C>T | |
| ENST00000514502.1:c.*211-14C>T | ENSP00000425924.1:n.*211-14C>T | |
| ENST00000515760.1:n.328-14C>T | ||
| NM_002617.3:c.194-14C>T | NP_002608.1:n.194-14C>T | |
| NM_153818.1:c.194-14C>T | NP_722540.1:n.194-14C>T | |
| XM_011541573.1:c.194-14C>T | XP_011539875.1:n.194-14C>T | |
| XM_011541574.1:c.-239-14C>T | XP_011539876.1:n.-239-14C>T | |
| XM_011541575.1:c.-239-14C>T | XP_011539877.1:n.-239-14C>T | |
| XM_011541576.1:c.194-14C>T | XP_011539878.1:n.194-14C>T | |
| XR_946666.1:n.314-14C>T | ||
| XM_011541576.2:c.194-14C>T | XP_011539878.1:n.194-14C>T | |
| XR_946666.2:n.263-14C>T | ||
| NM_001374425.1:c.194-14C>T | NP_001361354.1:n.194-14C>T | |
| NM_001374426.1:c.-239-14C>T | NP_001361355.1:n.-239-14C>T | |
| NM_001374427.1:c.-239-14C>T | NP_001361356.1:n.-239-14C>T | |
| NM_002617.4:c.194-14C>T MANE Select | NP_002608.1:n.194-14C>T | |
| NM_153818.2:c.194-14C>T | NP_722540.1:n.194-14C>T | |
| NR_164636.1:n.313-14C>T |