Linked Data
ClinVar Variation Id:
697071
dbSNP Id:
rs375147598
ExAC:
7:150646091 A / G
gnomAD v2:
7-150646091-A-G
gnomAD v4:
7-150949003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949003A>G , CM000669.2:g.150949003A>G | GRCh38 |
| NC_000007.13:g.150646091A>G , CM000669.1:g.150646091A>G | GRCh37 |
| NC_000007.12:g.150277024A>G | NCBI36 |
| NG_008916.1:g.33924T>C , LRG_288:g.33924T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3278T>C | ||
| ENST00000262186.10:c.2445T>C MANE Select | ENSP00000262186.5:p.Pro815= | |
| ENST00000330883.9:c.1425T>C | ENSP00000328531.4:p.Pro475= | |
| ENST00000262186.9:c.2445T>C | ENSP00000262186.5:p.Pro815= | |
| ENST00000330883.8:c.1425T>C | ENSP00000328531.4:p.Pro475= | |
| NM_000238.3:c.2445T>C , LRG_288t1:c.2445T>C | NP_000229.1:p.Pro815= | |
| NM_172057.2:c.1425T>C , LRG_288t3:c.1425T>C | NP_742054.1:p.Pro475= | |
| XM_011516185.1:c.2145T>C | XP_011514487.1:p.Pro715= | |
| XM_011516186.1:c.2445T>C | XP_011514488.1:p.Pro815= | |
| XM_011516185.2:c.2145T>C | XP_011514487.1:p.Pro715= | |
| XM_011516186.3:c.2445T>C | XP_011514488.1:p.Pro815= | |
| XM_017012195.1:c.2295T>C | XP_016867684.1:p.Pro765= | |
| XM_017012196.1:c.2268T>C | XP_016867685.1:p.Pro756= | |
| NM_000238.4:c.2445T>C MANE Select | NP_000229.1:p.Pro815= | |
| NM_172057.3:c.1425T>C | NP_742054.1:p.Pro475= |