Linked Data
ClinVar Variation Id:
1672470
ClinVar RCV Id:
RCV002210543
dbSNP Id:
rs1313790749
gnomAD v2:
7-92135674-T-A
gnomAD v4:
7-92506360-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506360T>A , CM000669.2:g.92506360T>A | GRCh38 |
| NC_000007.13:g.92135674T>A , CM000669.1:g.92135674T>A | GRCh37 |
| NC_000007.12:g.91973610T>A | NCBI36 |
| NG_008341.1:g.27172A>T | |
| NG_008341.2:g.27172A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1804-16A>T MANE Select | ENSP00000248633.4:n.1804-16A>T | |
| ENST00000248633.8:c.1804-16A>T | ENSP00000248633.4:n.1804-16A>T | |
| ENST00000422866.1:c.622-16A>T | ||
| ENST00000428214.5:c.1804-16A>T | ENSP00000394413.1:n.1804-16A>T | |
| ENST00000438045.5:c.838-16A>T | ENSP00000410438.1:n.838-16A>T | |
| ENST00000484913.5:n.1843-16A>T | ||
| ENST00000496420.5:n.1464A>T | ||
| NM_000466.2:c.1804-16A>T | NP_000457.1:n.1804-16A>T | |
| NM_001282677.1:c.1804-16A>T | NP_001269606.1:n.1804-16A>T | |
| NM_001282678.1:c.1180-16A>T | NP_001269607.1:n.1180-16A>T | |
| XM_005250433.3:c.55-16A>T | XP_005250490.1:n.55-16A>T | |
| XR_242246.3:n.1900-16A>T | ||
| XM_017012319.2:c.55-16A>T | XP_016867808.1:n.55-16A>T | |
| XR_001744808.2:n.831-16A>T | ||
| XR_242246.5:n.1851-16A>T | ||
| NM_000466.3:c.1804-16A>T MANE Select | NP_000457.1:n.1804-16A>T | |
| NM_001282677.2:c.1804-16A>T | NP_001269606.1:n.1804-16A>T | |
| NM_001282678.2:c.1180-16A>T | NP_001269607.1:n.1180-16A>T |