Linked Data
ClinVar Variation Id:
361661
ClinVar RCV Id:
RCV000376661
dbSNP Id:
rs367543871
gnomAD v2:
8-119123076-T-C
gnomAD v3:
8-118110837-T-C
gnomAD v4:
8-118110837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110837T>C , CM000670.2:g.118110837T>C | GRCh38 |
| NC_000008.10:g.119123076T>C , CM000670.1:g.119123076T>C | GRCh37 |
| NC_000008.9:g.119192257T>C | NCBI36 |
| NG_007455.2:g.5983A>G , LRG_493:g.5983A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.210A>G MANE Select | ENSP00000367446.3:p.Gln70= | |
| ENST00000378204.6:c.210A>G | ENSP00000367446.2:p.Gln70= | |
| ENST00000437196.1:c.73+137A>G | ENSP00000407299.1:n.73+137A>G | |
| NM_000127.2:c.210A>G , LRG_493t1:c.210A>G | NP_000118.2:p.Gln70= | |
| NM_000127.3:c.210A>G MANE Select | NP_000118.2:p.Gln70= |