Linked Data
ClinVar Variation Id:
297156
ClinVar RCV Id:
RCV000381240
dbSNP Id:
rs751943571
ExAC:
1:33252687 T / C
gnomAD v2:
1-33252687-T-C
gnomAD v3:
1-32787086-T-C
gnomAD v4:
1-32787086-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32787086T>C , CM000663.2:g.32787086T>C | GRCh38 |
| NC_000001.10:g.33252687T>C , CM000663.1:g.33252687T>C | GRCh37 |
| NC_000001.9:g.33025274T>C | NCBI36 |
| NG_008408.1:g.35947A>G , LRG_273:g.35947A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.538-11A>G | ENSP00000502019.1:n.538-11A>G | |
| ENST00000373477.9:c.685-11A>G MANE Select | ENSP00000362576.4:n.685-11A>G | |
| ENST00000481895.6:c.*749A>G | ENSP00000502016.1:n.*749A>G | |
| ENST00000616261.2:c.*54-11A>G | ENSP00000484192.2:n.*54-11A>G | |
| ENST00000674629.1:c.*233-11A>G | ENSP00000502470.1:n.*233-11A>G | |
| ENST00000674654.1:c.*153-11A>G | ENSP00000501729.1:n.*153-11A>G | |
| ENST00000675785.1:c.538-11A>G | ENSP00000502019.1:n.538-11A>G | |
| ENST00000676297.1:c.*367-11A>G | ENSP00000501596.1:n.*367-11A>G | |
| ENST00000373477.8:c.685-11A>G | ENSP00000362576.4:n.685-11A>G | |
| ENST00000466052.1:n.593-11A>G | ||
| ENST00000481895.5:n.805-11A>G | ||
| ENST00000616261.1:c.685-11A>G | ENSP00000484192.1:n.685-11A>G | |
| NM_003680.3:c.685-11A>G , LRG_273t1:c.685-11A>G | NP_003671.1:n.685-11A>G | |
| XM_011542347.1:c.55-11A>G | XP_011540649.1:n.55-11A>G | |
| XM_011542348.1:c.55-11A>G | XP_011540650.1:n.55-11A>G | |
| XM_011542347.2:c.55-11A>G | XP_011540649.1:n.55-11A>G | |
| XM_017002651.2:c.55-11A>G | XP_016858140.1:n.55-11A>G | |
| NM_003680.4:c.685-11A>G MANE Select | NP_003671.1:n.685-11A>G |