Linked Data
ClinVar Variation Id:
1119767
ClinVar RCV Id:
RCV001449369
dbSNP Id:
rs2131312496
gnomAD v4:
7-100627658-G-T
MyVariant Identifiers:
chr7:g.100225281G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100627658G>T , CM000669.2:g.100627658G>T | GRCh38 |
| NC_000007.13:g.100225281G>T , CM000669.1:g.100225281G>T | GRCh37 |
| NC_000007.12:g.100063217G>T | NCBI36 |
| NG_007989.1:g.18893C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1686C>A MANE Select | ENSP00000223051.3:p.Ile562= | |
| ENST00000223051.7:c.1686C>A | ENSP00000223051.3:p.Ile562= | |
| ENST00000431692.5:c.*361C>A | ENSP00000413905.1:n.*361C>A | |
| ENST00000462090.5:n.637C>A | ||
| ENST00000462107.1:c.1686C>A | ENSP00000420525.1:p.Ile562= | |
| ENST00000465294.5:n.1521C>A | ||
| ENST00000473374.5:n.759C>A | ||
| ENST00000473963.1:n.715C>A | ||
| ENST00000476304.5:n.1307C>A | ||
| ENST00000490084.5:c.1039C>A | ||
| NM_001206855.1:c.1173C>A | NP_001193784.1:p.Ile391= | |
| NM_003227.3:c.1686C>A | NP_003218.2:p.Ile562= | |
| XM_005250553.3:c.1686C>A | XP_005250610.1:p.Ile562= | |
| XM_005250554.3:c.1686C>A | XP_005250611.1:p.Ile562= | |
| XR_927814.1:n.434-3498G>T | ||
| NM_001206855.2:c.1173C>A | NP_001193784.1:p.Ile391= | |
| XM_005250553.4:c.1686C>A | XP_005250610.1:p.Ile562= | |
| XM_017012573.1:c.1686C>A | XP_016868062.1:p.Ile562= | |
| NM_003227.4:c.1686C>A MANE Select | NP_003218.2:p.Ile562= | |
| NM_001206855.3:c.1173C>A | NP_001193784.1:p.Ile391= |