Linked Data
ClinVar Variation Id:
441163
ClinVar RCV Id:
RCV000509372
dbSNP Id:
rs16881446
gnomAD v2:
4-11408585-T-C
gnomAD v3:
4-11406961-T-C
gnomAD v4:
4-11406961-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.11406961T>C , CM000666.2:g.11406961T>C | GRCh38 |
| NC_000004.11:g.11408585T>C , CM000666.1:g.11408585T>C | GRCh37 |
| NC_000004.10:g.11017683T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000002596.6:c.-108-6848A>G MANE Select | ENSP00000002596.5:n.-108-6848A>G | |
| ENST00000002596.5:c.-108-6848A>G | ENSP00000002596.5:n.-108-6848A>G | |
| ENST00000510712.1:c.-108-6848A>G | ENSP00000422629.1:n.-108-6848A>G | |
| ENST00000514690.5:c.-108-6848A>G | ENSP00000425673.1:n.-108-6848A>G | |
| NM_005114.2:c.-108-6848A>G | NP_005105.1:n.-108-6848A>G | |
| XM_011513913.1:c.-108-6848A>G | XP_011512215.1:n.-108-6848A>G | |
| XM_011513913.3:c.-108-6848A>G | XP_011512215.1:n.-108-6848A>G | |
| NM_005114.3:c.-108-6848A>G | NP_005105.1:n.-108-6848A>G | |
| NM_005114.4:c.-108-6848A>G MANE Select | NP_005105.1:n.-108-6848A>G |