Linked Data
ClinVar Variation Id:
988126
dbSNP Id:
rs115710123
gnomAD v3:
6-107876670-C-A
gnomAD v4:
6-107876670-C-A
COSMIC:
COSM5904570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107876670C>A , CM000668.2:g.107876670C>A | GRCh38 |
| NC_000006.11:g.108197874C>A , CM000668.1:g.108197874C>A | GRCh37 |
| NC_000006.10:g.108304567C>A | NCBI36 |
| NG_008270.1:g.86609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.1936-8G>T MANE Select | ENSP00000357998.4:n.1936-8G>T | |
| ENST00000369002.8:c.1936-8G>T | ENSP00000357998.4:n.1936-8G>T | |
| ENST00000459782.1:n.731G>T | ||
| ENST00000473746.1:n.583-8G>T | ||
| NM_007214.4:c.1936-8G>T | NP_009145.1:n.1936-8G>T | |
| XM_011535399.1:c.1768-8G>T | XP_011533701.1:n.1768-8G>T | |
| XM_017010218.2:c.838-8G>T | XP_016865707.1:n.838-8G>T | |
| NM_007214.5:c.1936-8G>T MANE Select | NP_009145.1:n.1936-8G>T |