Linked Data
ClinVar Variation Id:
1159032
ClinVar RCV Id:
RCV001502627
dbSNP Id:
rs2116249061
MyVariant Identifiers:
chr7:g.92147536G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518222G>A , CM000669.2:g.92518222G>A | GRCh38 |
| NC_000007.13:g.92147536G>A , CM000669.1:g.92147536G>A | GRCh37 |
| NC_000007.12:g.91985472G>A | NCBI36 |
| NG_008341.1:g.15310C>T | |
| NG_008341.2:g.15310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.391C>T MANE Select | ENSP00000248633.4:p.Leu131= | |
| ENST00000248633.8:c.391C>T | ENSP00000248633.4:p.Leu131= | |
| ENST00000428214.5:c.391C>T | ENSP00000394413.1:p.Leu131= | |
| ENST00000438045.5:c.273+3880C>T | ENSP00000410438.1:n.273+3880C>T | |
| ENST00000484913.5:n.430C>T | ||
| NM_000466.2:c.391C>T | NP_000457.1:p.Leu131= | |
| NM_001282677.1:c.391C>T | NP_001269606.1:p.Leu131= | |
| NM_001282678.1:c.-234C>T | NP_001269607.1:n.-234C>T | |
| XR_242246.3:n.487C>T | ||
| XR_242246.5:n.438C>T | ||
| NM_000466.3:c.391C>T MANE Select | NP_000457.1:p.Leu131= | |
| NM_001282677.2:c.391C>T | NP_001269606.1:p.Leu131= | |
| NM_001282678.2:c.-234C>T | NP_001269607.1:n.-234C>T |