Linked Data
ClinVar Variation Id:
1113697
ClinVar RCV Id:
RCV001441128
dbSNP Id:
rs2116253163
MyVariant Identifiers:
chr7:g.92148333G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519019G>C , CM000669.2:g.92519019G>C | GRCh38 |
| NC_000007.13:g.92148333G>C , CM000669.1:g.92148333G>C | GRCh37 |
| NC_000007.12:g.91986269G>C | NCBI36 |
| NG_008341.1:g.14513C>G | |
| NG_008341.2:g.14513C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.333C>G MANE Select | ENSP00000248633.4:p.Leu111= | |
| ENST00000248633.8:c.333C>G | ENSP00000248633.4:p.Leu111= | |
| ENST00000428214.5:c.333C>G | ENSP00000394413.1:p.Leu111= | |
| ENST00000438045.5:c.273+3083C>G | ENSP00000410438.1:n.273+3083C>G | |
| ENST00000484913.5:n.337C>G | ||
| NM_000466.2:c.333C>G | NP_000457.1:p.Leu111= | |
| NM_001282677.1:c.333C>G | NP_001269606.1:p.Leu111= | |
| NM_001282678.1:c.-327C>G | NP_001269607.1:n.-327C>G | |
| XR_242246.3:n.429C>G | ||
| XR_242246.5:n.380C>G | ||
| NM_000466.3:c.333C>G MANE Select | NP_000457.1:p.Leu111= | |
| NM_001282677.2:c.333C>G | NP_001269606.1:p.Leu111= | |
| NM_001282678.2:c.-327C>G | NP_001269607.1:n.-327C>G |