Linked Data
ClinVar Variation Id:
1589143
ClinVar RCV Id:
RCV002098746
dbSNP Id:
rs2116938469
MyVariant Identifiers:
chr7:g.150645614G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948526G>C , CM000669.2:g.150948526G>C | GRCh38 |
| NC_000007.13:g.150645614G>C , CM000669.1:g.150645614G>C | GRCh37 |
| NC_000007.12:g.150276547G>C | NCBI36 |
| NG_008916.1:g.34401C>G , LRG_288:g.34401C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3443C>G | ||
| ENST00000262186.10:c.2610C>G MANE Select | ENSP00000262186.5:p.Gly870= | |
| ENST00000330883.9:c.1590C>G | ENSP00000328531.4:p.Gly530= | |
| ENST00000262186.9:c.2610C>G | ENSP00000262186.5:p.Gly870= | |
| ENST00000330883.8:c.1590C>G | ENSP00000328531.4:p.Gly530= | |
| NM_000238.3:c.2610C>G , LRG_288t1:c.2610C>G | NP_000229.1:p.Gly870= | |
| NM_172057.2:c.1590C>G , LRG_288t3:c.1590C>G | NP_742054.1:p.Gly530= | |
| XM_011516185.1:c.2310C>G | XP_011514487.1:p.Gly770= | |
| XM_011516186.1:c.2610C>G | XP_011514488.1:p.Gly870= | |
| XM_011516185.2:c.2310C>G | XP_011514487.1:p.Gly770= | |
| XM_011516186.3:c.2610C>G | XP_011514488.1:p.Gly870= | |
| XM_017012195.1:c.2460C>G | XP_016867684.1:p.Gly820= | |
| XM_017012196.1:c.2433C>G | XP_016867685.1:p.Gly811= | |
| NM_000238.4:c.2610C>G MANE Select | NP_000229.1:p.Gly870= | |
| NM_172057.3:c.1590C>G | NP_742054.1:p.Gly530= |