Linked Data
ClinVar Variation Id:
2186835
ClinVar RCV Id:
RCV002623374
dbSNP Id:
rs201616999
ExAC:
1:33245895 G / A
gnomAD v2:
1-33245895-G-A
gnomAD v3:
1-32780294-G-A
gnomAD v4:
1-32780294-G-A
COSMIC:
COSN8638189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780294G>A , CM000663.2:g.32780294G>A | GRCh38 |
| NC_000001.10:g.33245895G>A , CM000663.1:g.33245895G>A | GRCh37 |
| NC_000001.9:g.33018482G>A | NCBI36 |
| NG_008408.1:g.42739C>T , LRG_273:g.42739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.994-16C>T | ENSP00000502019.1:n.994-16C>T | |
| ENST00000373477.9:c.1141-16C>T MANE Select | ENSP00000362576.4:n.1141-16C>T | |
| ENST00000674629.1:c.*689-16C>T | ENSP00000502470.1:n.*689-16C>T | |
| ENST00000674654.1:c.*1101-16C>T | ENSP00000501729.1:n.*1101-16C>T | |
| ENST00000675785.1:c.994-16C>T | ENSP00000502019.1:n.994-16C>T | |
| ENST00000676297.1:c.*1315-16C>T | ENSP00000501596.1:n.*1315-16C>T | |
| ENST00000373477.8:c.1141-16C>T | ENSP00000362576.4:n.1141-16C>T | |
| ENST00000469100.5:n.1057-16C>T | ||
| ENST00000478828.1:n.608-16C>T | ||
| ENST00000487404.5:n.1451-16C>T | ||
| ENST00000490826.1:n.418C>T | ||
| ENST00000616261.1:c.1140-16C>T | ENSP00000484192.1:n.1140-16C>T | |
| NM_003680.3:c.1141-16C>T , LRG_273t1:c.1141-16C>T | NP_003671.1:n.1141-16C>T | |
| XM_011542347.1:c.511-16C>T | XP_011540649.1:n.511-16C>T | |
| XM_011542348.1:c.511-16C>T | XP_011540650.1:n.511-16C>T | |
| XM_011542347.2:c.511-16C>T | XP_011540649.1:n.511-16C>T | |
| XM_017002651.2:c.511-16C>T | XP_016858140.1:n.511-16C>T | |
| NM_003680.4:c.1141-16C>T MANE Select | NP_003671.1:n.1141-16C>T |