Linked Data
ClinVar Variation Id:
1118551
ClinVar RCV Id:
RCV001447683
dbSNP Id:
rs1365685560
gnomAD v2:
8-87751875-A-G
gnomAD v4:
8-86739647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739647A>G , CM000670.2:g.86739647A>G | GRCh38 |
| NC_000008.10:g.87751875A>G , CM000670.1:g.87751875A>G | GRCh37 |
| NC_000008.9:g.87820991A>G | NCBI36 |
| NG_016980.1:g.9029T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+8T>C MANE Select | ENSP00000316605.5:n.211+8T>C | |
| ENST00000681746.1:c.211+8T>C | ENSP00000505959.1:n.211+8T>C | |
| ENST00000320005.5:c.211+8T>C | ENSP00000316605.5:n.211+8T>C | |
| ENST00000519777.1:n.193+8T>C | ||
| NM_019098.4:c.211+8T>C | NP_061971.3:n.211+8T>C | |
| NM_019098.5:c.211+8T>C MANE Select | NP_061971.3:n.211+8T>C |