Linked Data
ClinVar Variation Id:
2089613
ClinVar RCV Id:
RCV003003198
dbSNP Id:
rs1446392468
gnomAD v3:
7-92522117-G-A
gnomAD v4:
7-92522117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522117G>A , CM000669.2:g.92522117G>A | GRCh38 |
| NC_000007.13:g.92151431G>A , CM000669.1:g.92151431G>A | GRCh37 |
| NC_000007.12:g.91989367G>A | NCBI36 |
| NG_008341.1:g.11415C>T | |
| NG_008341.2:g.11415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.258C>T MANE Select | ENSP00000248633.4:p.Leu86= | |
| ENST00000248633.8:c.258C>T | ENSP00000248633.4:p.Leu86= | |
| ENST00000428214.5:c.258C>T | ENSP00000394413.1:p.Leu86= | |
| ENST00000438045.5:c.258C>T | ENSP00000410438.1:p.Leu86= | |
| ENST00000484913.5:n.262C>T | ||
| NM_000466.2:c.258C>T | NP_000457.1:p.Leu86= | |
| NM_001282677.1:c.258C>T | NP_001269606.1:p.Leu86= | |
| NM_001282678.1:c.-402C>T | NP_001269607.1:n.-402C>T | |
| XR_242246.3:n.354C>T | ||
| XR_242246.5:n.305C>T | ||
| NM_000466.3:c.258C>T MANE Select | NP_000457.1:p.Leu86= | |
| NM_001282677.2:c.258C>T | NP_001269606.1:p.Leu86= | |
| NM_001282678.2:c.-402C>T | NP_001269607.1:n.-402C>T |