Linked Data
ClinVar Variation Id:
3001365
ClinVar RCV Id:
RCV003852508
dbSNP Id:
rs1246162648
gnomAD v2:
8-87680239-G-A
gnomAD v4:
8-86668011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668011G>A , CM000670.2:g.86668011G>A | GRCh38 |
| NC_000008.10:g.87680239G>A , CM000670.1:g.87680239G>A | GRCh37 |
| NC_000008.9:g.87749355G>A | NCBI36 |
| NG_016980.1:g.80665C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.643+8C>T MANE Select | ENSP00000316605.5:n.643+8C>T | |
| ENST00000681746.1:c.643+8C>T | ENSP00000505959.1:n.643+8C>T | |
| ENST00000320005.5:c.643+8C>T | ENSP00000316605.5:n.643+8C>T | |
| NM_019098.4:c.643+8C>T | NP_061971.3:n.643+8C>T | |
| XM_011517138.1:c.229+8C>T | XP_011515440.1:n.229+8C>T | |
| XM_011517138.2:c.229+8C>T | XP_011515440.1:n.229+8C>T | |
| NM_019098.5:c.643+8C>T MANE Select | NP_061971.3:n.643+8C>T |