Linked Data
ClinVar Variation Id:
2051676
ClinVar RCV Id:
RCV002927436
MyVariant Identifiers:
chr7:g.92129057T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499743T>C , CM000669.2:g.92499743T>C | GRCh38 |
| NC_000007.13:g.92129057T>C , CM000669.1:g.92129057T>C | GRCh37 |
| NC_000007.12:g.91966993T>C | NCBI36 |
| NG_008341.1:g.33789A>G | |
| NG_008341.2:g.33789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2679A>G MANE Select | ENSP00000248633.4:p.Val893= | |
| ENST00000248633.8:c.2679A>G | ENSP00000248633.4:p.Val893= | |
| ENST00000428214.5:c.2508A>G | ENSP00000394413.1:p.Val836= | |
| ENST00000438045.5:c.1713A>G | ENSP00000410438.1:p.Val571= | |
| ENST00000484913.5:n.2718A>G | ||
| ENST00000496420.5:n.2571A>G | ||
| NM_000466.2:c.2679A>G | NP_000457.1:p.Val893= | |
| NM_001282677.1:c.2508A>G | NP_001269606.1:p.Val836= | |
| NM_001282678.1:c.2055A>G | NP_001269607.1:p.Val685= | |
| XM_005250433.3:c.930A>G | XP_005250490.1:p.Val310= | |
| XR_242246.3:n.2775A>G | ||
| XM_017012319.2:c.930A>G | XP_016867808.1:p.Val310= | |
| XR_001744808.2:n.1706A>G | ||
| XR_242246.5:n.2726A>G | ||
| NM_000466.3:c.2679A>G MANE Select | NP_000457.1:p.Val893= | |
| NM_001282677.2:c.2508A>G | NP_001269606.1:p.Val836= | |
| NM_001282678.2:c.2055A>G | NP_001269607.1:p.Val685= |