Linked Data
ClinVar Variation Id:
1578306
ClinVar RCV Id:
RCV002090533
dbSNP Id:
rs780791624
MyVariant Identifiers:
chr7:g.92147534T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518220T>G , CM000669.2:g.92518220T>G | GRCh38 |
| NC_000007.13:g.92147534T>G , CM000669.1:g.92147534T>G | GRCh37 |
| NC_000007.12:g.91985470T>G | NCBI36 |
| NG_008341.1:g.15312A>C | |
| NG_008341.2:g.15312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.393A>C MANE Select | ENSP00000248633.4:p.Leu131= | |
| ENST00000248633.8:c.393A>C | ENSP00000248633.4:p.Leu131= | |
| ENST00000428214.5:c.393A>C | ENSP00000394413.1:p.Leu131= | |
| ENST00000438045.5:c.273+3882A>C | ENSP00000410438.1:n.273+3882A>C | |
| ENST00000484913.5:n.432A>C | ||
| NM_000466.2:c.393A>C | NP_000457.1:p.Leu131= | |
| NM_001282677.1:c.393A>C | NP_001269606.1:p.Leu131= | |
| NM_001282678.1:c.-232A>C | NP_001269607.1:n.-232A>C | |
| XR_242246.3:n.489A>C | ||
| XR_242246.5:n.440A>C | ||
| NM_000466.3:c.393A>C MANE Select | NP_000457.1:p.Leu131= | |
| NM_001282677.2:c.393A>C | NP_001269606.1:p.Leu131= | |
| NM_001282678.2:c.-232A>C | NP_001269607.1:n.-232A>C |