Linked Data
ClinVar Variation Id:
9137
dbSNP Id:
rs121917849
gnomAD v2:
8-63985549-A-C
gnomAD v4:
8-63072990-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072990A>C , CM000670.2:g.63072990A>C | GRCh38 |
| NC_000008.10:g.63985549A>C , CM000670.1:g.63985549A>C | GRCh37 |
| NC_000008.9:g.64148103A>C | NCBI36 |
| NG_016123.1:g.18064T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.303T>G MANE Select | ENSP00000260116.4:p.His101Gln | |
| ENST00000260116.4:c.303T>G | ENSP00000260116.4:p.His101Gln | |
| ENST00000521138.1:n.232+12828T>G | ||
| NM_000370.3:c.303T>G MANE Select | NP_000361.1:p.His101Gln | |
| XM_006716468.2:c.205-8674T>G | XP_006716531.1:n.205-8674T>G | |
| XM_006716468.4:c.205-8674T>G | XP_006716531.1:n.205-8674T>G |