Linked Data
ClinVar Variation Id:
1968181
ClinVar RCV Id:
RCV002727310
dbSNP Id:
rs1585231748
MyVariant Identifiers:
chr7:g.92131286C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501972C>A , CM000669.2:g.92501972C>A | GRCh38 |
| NC_000007.13:g.92131286C>A , CM000669.1:g.92131286C>A | GRCh37 |
| NC_000007.12:g.91969222C>A | NCBI36 |
| NG_008341.1:g.31560G>T | |
| NG_008341.2:g.31560G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2334G>T MANE Select | ENSP00000248633.4:p.Gly778= | |
| ENST00000248633.8:c.2334G>T | ENSP00000248633.4:p.Gly778= | |
| ENST00000428214.5:c.2163G>T | ENSP00000394413.1:p.Gly721= | |
| ENST00000438045.5:c.1368G>T | ENSP00000410438.1:p.Gly456= | |
| ENST00000484913.5:n.2373G>T | ||
| ENST00000496092.1:n.132G>T | ||
| ENST00000496420.5:n.2010G>T | ||
| NM_000466.2:c.2334G>T | NP_000457.1:p.Gly778= | |
| NM_001282677.1:c.2163G>T | NP_001269606.1:p.Gly721= | |
| NM_001282678.1:c.1710G>T | NP_001269607.1:p.Gly570= | |
| XM_005250433.3:c.585G>T | XP_005250490.1:p.Gly195= | |
| XR_242246.3:n.2430G>T | ||
| XM_017012319.2:c.585G>T | XP_016867808.1:p.Gly195= | |
| XR_001744808.2:n.1361G>T | ||
| XR_242246.5:n.2381G>T | ||
| NM_000466.3:c.2334G>T MANE Select | NP_000457.1:p.Gly778= | |
| NM_001282677.2:c.2163G>T | NP_001269606.1:p.Gly721= | |
| NM_001282678.2:c.1710G>T | NP_001269607.1:p.Gly570= |