Linked Data
ClinVar Variation Id:
12987
dbSNP Id:
rs193922886
gnomAD v3:
19-38583494-A-G
gnomAD v4:
19-38583494-A-G
PubMed:
PMID:12719381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38583494A>G , CM000681.2:g.38583494A>G | GRCh38 |
| NC_000019.9:g.39074134A>G , CM000681.1:g.39074134A>G | GRCh37 |
| NC_000019.8:g.43765974A>G | NCBI36 |
| NG_008866.1:g.154795A>G , LRG_766:g.154795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1583-1449A>G | ||
| ENST00000688602.1:c.2980-1449A>G | ||
| ENST00000689936.1:c.2952-1449A>G | ||
| ENST00000359596.8:c.14647-1449A>G MANE Select | ENSP00000352608.2:n.14647-1449A>G | |
| ENST00000355481.8:c.14632-1449A>G | ENSP00000347667.3:n.14632-1449A>G | |
| ENST00000359596.7:c.14647-1449A>G | ENSP00000352608.2:n.14647-1449A>G | |
| ENST00000360985.7:c.14629-1449A>G | ENSP00000354254.4:n.14629-1449A>G | |
| NM_000540.2:c.14647-1449A>G , LRG_766t1:c.14647-1449A>G | NP_000531.2:n.14647-1449A>G | |
| NM_001042723.1:c.14632-1449A>G | NP_001036188.1:n.14632-1449A>G | |
| XM_006723317.1:c.14629-1449A>G | XP_006723380.1:n.14629-1449A>G | |
| XM_006723319.1:c.14614-1449A>G | XP_006723382.1:n.14614-1449A>G | |
| XM_011527204.1:c.14644-1449A>G | XP_011525506.1:n.14644-1449A>G | |
| XM_011527205.1:c.14560-1449A>G | XP_011525507.1:n.14560-1449A>G | |
| XM_006723317.2:c.14629-1449A>G | XP_006723380.1:n.14629-1449A>G | |
| XM_006723319.2:c.14614-1449A>G | XP_006723382.1:n.14614-1449A>G | |
| XM_011527205.2:c.14560-1449A>G | XP_011525507.1:n.14560-1449A>G | |
| NM_000540.3:c.14647-1449A>G MANE Select | NP_000531.2:n.14647-1449A>G | |
| NM_001042723.2:c.14632-1449A>G | NP_001036188.1:n.14632-1449A>G |