Linked Data
ClinVar Variation Id:
1290736
ClinVar RCV Id:
RCV001715455
dbSNP Id:
rs116496816
gnomAD v2:
7-107336120-G-T
gnomAD v3:
7-107695675-G-T
gnomAD v4:
7-107695675-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695675G>T , CM000669.2:g.107695675G>T | GRCh38 |
| NC_000007.13:g.107336120G>T , CM000669.1:g.107336120G>T | GRCh37 |
| NC_000007.12:g.107123356G>T | NCBI36 |
| NG_008489.1:g.40041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1438-258G>T MANE Select | ENSP00000494017.1:n.1438-258G>T | |
| ENST00000644846.1:c.149-258G>T | ||
| ENST00000265715.7:c.1438-258G>T | ENSP00000265715.3:n.1438-258G>T | |
| ENST00000460748.1:n.541-258G>T | ||
| ENST00000477350.5:n.285-258G>T | ||
| ENST00000480841.5:n.287-258G>T | ||
| ENST00000497446.5:n.453-258G>T | ||
| NM_000441.1:c.1438-258G>T | NP_000432.1:n.1438-258G>T | |
| XM_005250425.1:c.1438-258G>T | XP_005250482.1:n.1438-258G>T | |
| XM_005250425.2:c.1438-258G>T | XP_005250482.1:n.1438-258G>T | |
| XM_017012318.1:c.1360-258G>T | XP_016867807.1:n.1360-258G>T | |
| NM_000441.2:c.1438-258G>T MANE Select | NP_000432.1:n.1438-258G>T |