Linked Data
ClinVar Variation Id:
1674134
ClinVar RCV Id:
RCV002204294
dbSNP Id:
rs770555588
gnomAD v2:
9-116044914-T-C
gnomAD v3:
9-113282634-T-C
gnomAD v4:
9-113282634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113282634T>C , CM000671.2:g.113282634T>C | GRCh38 |
| NC_000009.11:g.116044914T>C , CM000671.1:g.116044914T>C | GRCh37 |
| NC_000009.10:g.115084735T>C | NCBI36 |
| NG_034225.1:g.12001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374198.5:c.393-12T>C MANE Select | ENSP00000363313.4:n.393-12T>C | |
| ENST00000374199.9:c.396-12T>C | ENSP00000363315.4:n.396-12T>C | |
| ENST00000374198.4:c.396-12T>C | ENSP00000363313.3:n.396-12T>C | |
| ENST00000374199.8:c.393-12T>C | ENSP00000363315.3:n.393-12T>C | |
| ENST00000488937.1:n.37-12T>C | ||
| NM_001244926.1:c.393-12T>C | NP_001231855.1:n.393-12T>C | |
| NM_004697.4:c.396-12T>C | NP_004688.2:n.396-12T>C | |
| XM_011519181.1:c.396-12T>C | XP_011517483.1:n.396-12T>C | |
| NM_001322266.1:c.-373-12T>C | NP_001309195.1:n.-373-12T>C | |
| NM_001322267.1:c.-373-12T>C | NP_001309196.1:n.-373-12T>C | |
| NR_136265.1:n.506-12T>C | ||
| NR_136266.1:n.503-12T>C | ||
| NM_001244926.2:c.393-12T>C MANE Select | NP_001231855.1:n.393-12T>C | |
| NM_001322266.2:c.-373-12T>C | NP_001309195.1:n.-373-12T>C | |
| NM_001322267.2:c.-373-12T>C | NP_001309196.1:n.-373-12T>C | |
| NM_004697.5:c.396-12T>C | NP_004688.2:n.396-12T>C | |
| NR_136265.2:n.482-12T>C | ||
| NR_136266.2:n.479-12T>C |