Linked Data
ClinVar Variation Id:
1578378
ClinVar RCV Id:
RCV002090565
dbSNP Id:
rs1554427841
gnomAD v4:
7-150958294-G-C
MyVariant Identifiers:
chr7:g.150655382G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958294G>C , CM000669.2:g.150958294G>C | GRCh38 |
| NC_000007.13:g.150655382G>C , CM000669.1:g.150655382G>C | GRCh37 |
| NC_000007.12:g.150286315G>C | NCBI36 |
| NG_008916.1:g.24633C>G , LRG_288:g.24633C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1514C>G | ||
| ENST00000262186.10:c.681C>G MANE Select | ENSP00000262186.5:p.Pro227= | |
| ENST00000262186.9:c.681C>G | ENSP00000262186.5:p.Pro227= | |
| ENST00000430723.4:c.333C>G | ENSP00000387657.4:p.Pro111= | |
| ENST00000532957.5:n.904C>G | ||
| NM_000238.3:c.681C>G , LRG_288t1:c.681C>G | NP_000229.1:p.Pro227= | |
| NM_172056.2:c.681C>G , LRG_288t2:c.681C>G | NP_742053.1:p.Pro227= | |
| XM_011516185.1:c.381C>G | XP_011514487.1:p.Pro127= | |
| XM_011516186.1:c.681C>G | XP_011514488.1:p.Pro227= | |
| XM_011516185.2:c.381C>G | XP_011514487.1:p.Pro127= | |
| XM_011516186.3:c.681C>G | XP_011514488.1:p.Pro227= | |
| XM_017012195.1:c.531C>G | XP_016867684.1:p.Pro177= | |
| XM_017012196.1:c.504C>G | XP_016867685.1:p.Pro168= | |
| NM_000238.4:c.681C>G MANE Select | NP_000229.1:p.Pro227= |