Linked Data
ClinVar Variation Id:
2881097
ClinVar RCV Id:
RCV003715743
dbSNP Id:
rs200212977
gnomAD v3:
8-101543237-A-G
gnomAD v4:
8-101543237-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101543237A>G , CM000670.2:g.101543237A>G | GRCh38 |
| NC_000008.10:g.102555465A>G , CM000670.1:g.102555465A>G | GRCh37 |
| NC_000008.9:g.102624641A>G | NCBI36 |
| NG_011971.1:g.55798A>G | |
| NG_011971.2:g.55798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.21-4A>G MANE Select | ENSP00000495564.1:n.21-4A>G | |
| ENST00000251808.7:c.21-4A>G | ENSP00000251808.3:n.21-4A>G | |
| ENST00000395927.1:c.-28-4A>G | ENSP00000379260.1:n.-28-4A>G | |
| ENST00000472106.2:n.349-4A>G | ||
| NM_024915.3:c.21-4A>G | NP_079191.2:n.21-4A>G | |
| XM_011517305.1:c.-28-4A>G | XP_011515607.1:n.-28-4A>G | |
| XM_011517306.1:c.-28-4A>G | XP_011515608.1:n.-28-4A>G | |
| XM_011517307.1:c.21-4A>G | XP_011515609.1:n.21-4A>G | |
| NM_001330593.1:c.-28-4A>G | NP_001317522.1:n.-28-4A>G | |
| XM_011517306.3:c.-28-4A>G | XP_011515608.1:n.-28-4A>G | |
| XM_011517307.3:c.21-4A>G | XP_011515609.1:n.21-4A>G | |
| NM_001330593.2:c.-28-4A>G | NP_001317522.1:n.-28-4A>G | |
| NM_024915.4:c.21-4A>G MANE Select | NP_079191.2:n.21-4A>G |