Linked Data
ClinVar Variation Id:
3230724
ClinVar RCV Id:
RCV004522839
dbSNP Id:
rs1405313438
gnomAD v2:
7-150649549-G-C
gnomAD v4:
7-150952461-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952461G>C , CM000669.2:g.150952461G>C | GRCh38 |
| NC_000007.13:g.150649549G>C , CM000669.1:g.150649549G>C | GRCh37 |
| NC_000007.12:g.150280482G>C | NCBI36 |
| NG_008916.1:g.30466C>G , LRG_288:g.30466C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.819C>G | ||
| ENST00000684116.1:n.414C>G | ||
| ENST00000684241.1:n.2354C>G | ||
| ENST00000262186.10:c.1521C>G MANE Select | ENSP00000262186.5:p.Pro507= | |
| ENST00000330883.9:c.501C>G | ENSP00000328531.4:p.Pro167= | |
| ENST00000262186.9:c.1521C>G | ENSP00000262186.5:p.Pro507= | |
| ENST00000330883.8:c.501C>G | ENSP00000328531.4:p.Pro167= | |
| ENST00000430723.4:c.1173C>G | ENSP00000387657.4:p.Pro391= | |
| ENST00000461280.1:n.808C>G | ||
| ENST00000473610.5:n.826C>G | ||
| ENST00000532957.5:n.1744C>G | ||
| NM_000238.3:c.1521C>G , LRG_288t1:c.1521C>G | NP_000229.1:p.Pro507= | |
| NM_001204798.1:c.501C>G | NP_001191727.1:p.Pro167= | |
| NM_172056.2:c.1521C>G , LRG_288t2:c.1521C>G | NP_742053.1:p.Pro507= | |
| NM_172057.2:c.501C>G , LRG_288t3:c.501C>G | NP_742054.1:p.Pro167= | |
| XM_011516185.1:c.1221C>G | XP_011514487.1:p.Pro407= | |
| XM_011516186.1:c.1521C>G | XP_011514488.1:p.Pro507= | |
| XM_011516185.2:c.1221C>G | XP_011514487.1:p.Pro407= | |
| XM_011516186.3:c.1521C>G | XP_011514488.1:p.Pro507= | |
| XM_017012195.1:c.1371C>G | XP_016867684.1:p.Pro457= | |
| XM_017012196.1:c.1344C>G | XP_016867685.1:p.Pro448= | |
| NM_000238.4:c.1521C>G MANE Select | NP_000229.1:p.Pro507= | |
| NM_001204798.2:c.501C>G | NP_001191727.1:p.Pro167= | |
| NM_172057.3:c.501C>G | NP_742054.1:p.Pro167= |