Linked Data
ClinVar Variation Id:
1100841
ClinVar RCV Id:
RCV001423582
dbSNP Id:
rs1823852903
gnomAD v4:
8-86671106-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671106A>G , CM000670.2:g.86671106A>G | GRCh38 |
| NC_000008.10:g.87683334A>G , CM000670.1:g.87683334A>G | GRCh37 |
| NC_000008.9:g.87752450A>G | NCBI36 |
| NG_016980.1:g.77570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.339-8T>C MANE Select | ENSP00000316605.5:n.339-8T>C | |
| ENST00000680314.1:n.100-8T>C | ||
| ENST00000681746.1:c.339-8T>C | ENSP00000505959.1:n.339-8T>C | |
| ENST00000320005.5:c.339-8T>C | ENSP00000316605.5:n.339-8T>C | |
| NM_019098.4:c.339-8T>C | NP_061971.3:n.339-8T>C | |
| XM_011517138.1:c.-76-8T>C | XP_011515440.1:n.-76-8T>C | |
| XM_011517138.2:c.-76-8T>C | XP_011515440.1:n.-76-8T>C | |
| NM_019098.5:c.339-8T>C MANE Select | NP_061971.3:n.339-8T>C |