Linked Data
ClinVar Variation Id:
1332549
ClinVar RCV Id:
RCV001842216
dbSNP Id:
rs1563167811
MyVariant Identifiers:
chr7:g.150654406G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957318G>C , CM000669.2:g.150957318G>C | GRCh38 |
| NC_000007.13:g.150654406G>C , CM000669.1:g.150654406G>C | GRCh37 |
| NC_000007.12:g.150285339G>C | NCBI36 |
| NG_008916.1:g.25609C>G , LRG_288:g.25609C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1934C>G | ||
| ENST00000262186.10:c.1101C>G MANE Select | ENSP00000262186.5:p.Thr367= | |
| ENST00000262186.9:c.1101C>G | ENSP00000262186.5:p.Thr367= | |
| ENST00000430723.4:c.753C>G | ENSP00000387657.4:p.Thr251= | |
| ENST00000532957.5:n.1324C>G | ||
| NM_000238.3:c.1101C>G , LRG_288t1:c.1101C>G | NP_000229.1:p.Thr367= | |
| NM_172056.2:c.1101C>G , LRG_288t2:c.1101C>G | NP_742053.1:p.Thr367= | |
| XM_011516185.1:c.801C>G | XP_011514487.1:p.Thr267= | |
| XM_011516186.1:c.1101C>G | XP_011514488.1:p.Thr367= | |
| XM_011516185.2:c.801C>G | XP_011514487.1:p.Thr267= | |
| XM_011516186.3:c.1101C>G | XP_011514488.1:p.Thr367= | |
| XM_017012195.1:c.951C>G | XP_016867684.1:p.Thr317= | |
| XM_017012196.1:c.924C>G | XP_016867685.1:p.Thr308= | |
| NM_000238.4:c.1101C>G MANE Select | NP_000229.1:p.Thr367= |