Linked Data
ClinVar Variation Id:
1159322
ClinVar RCV Id:
RCV001502999
dbSNP Id:
rs775421085
MyVariant Identifiers:
chr7:g.92129090C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499776C>G , CM000669.2:g.92499776C>G | GRCh38 |
| NC_000007.13:g.92129090C>G , CM000669.1:g.92129090C>G | GRCh37 |
| NC_000007.12:g.91967026C>G | NCBI36 |
| NG_008341.1:g.33756G>C | |
| NG_008341.2:g.33756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2646G>C MANE Select | ENSP00000248633.4:p.Pro882= | |
| ENST00000248633.8:c.2646G>C | ENSP00000248633.4:p.Pro882= | |
| ENST00000428214.5:c.2475G>C | ENSP00000394413.1:p.Pro825= | |
| ENST00000438045.5:c.1680G>C | ENSP00000410438.1:p.Pro560= | |
| ENST00000484913.5:n.2685G>C | ||
| ENST00000496420.5:n.2538G>C | ||
| NM_000466.2:c.2646G>C | NP_000457.1:p.Pro882= | |
| NM_001282677.1:c.2475G>C | NP_001269606.1:p.Pro825= | |
| NM_001282678.1:c.2022G>C | NP_001269607.1:p.Pro674= | |
| XM_005250433.3:c.897G>C | XP_005250490.1:p.Pro299= | |
| XR_242246.3:n.2742G>C | ||
| XM_017012319.2:c.897G>C | XP_016867808.1:p.Pro299= | |
| XR_001744808.2:n.1673G>C | ||
| XR_242246.5:n.2693G>C | ||
| NM_000466.3:c.2646G>C MANE Select | NP_000457.1:p.Pro882= | |
| NM_001282677.2:c.2475G>C | NP_001269606.1:p.Pro825= | |
| NM_001282678.2:c.2022G>C | NP_001269607.1:p.Pro674= |