Linked Data
ClinVar Variation Id:
2822468
ClinVar RCV Id:
RCV003714091
dbSNP Id:
rs924461796
gnomAD v4:
8-38145334-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145334A>C , CM000670.2:g.38145334A>C | GRCh38 |
| NC_000008.10:g.38002852A>C , CM000670.1:g.38002852A>C | GRCh37 |
| NC_000008.9:g.38122009A>C | NCBI36 |
| NG_011827.1:g.10749T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.651-19T>G MANE Select | ENSP00000276449.3:n.651-19T>G | |
| ENST00000276449.8:c.651-19T>G | ENSP00000276449.3:n.651-19T>G | |
| ENST00000520114.1:n.1766T>G | ||
| ENST00000522050.1:c.586+629T>G | ||
| NM_000349.2:c.651-19T>G | NP_000340.2:n.651-19T>G | |
| XM_006716392.1:c.650+629T>G | XP_006716455.1:n.650+629T>G | |
| NM_000349.3:c.651-19T>G MANE Select | NP_000340.2:n.651-19T>G |