Linked Data
ClinVar Variation Id:
1172183
dbSNP Id:
rs776954605
ExAC:
7:150645551 G / A
gnomAD v2:
7-150645551-G-A
gnomAD v4:
7-150948463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948463G>A , CM000669.2:g.150948463G>A | GRCh38 |
| NC_000007.13:g.150645551G>A , CM000669.1:g.150645551G>A | GRCh37 |
| NC_000007.12:g.150276484G>A | NCBI36 |
| NG_008916.1:g.34464C>T , LRG_288:g.34464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3506C>T | ||
| ENST00000262186.10:c.2673C>T MANE Select | ENSP00000262186.5:p.Phe891= | |
| ENST00000330883.9:c.1653C>T | ENSP00000328531.4:p.Phe551= | |
| ENST00000262186.9:c.2673C>T | ENSP00000262186.5:p.Phe891= | |
| ENST00000330883.8:c.1653C>T | ENSP00000328531.4:p.Phe551= | |
| NM_000238.3:c.2673C>T , LRG_288t1:c.2673C>T | NP_000229.1:p.Phe891= | |
| NM_172057.2:c.1653C>T , LRG_288t3:c.1653C>T | NP_742054.1:p.Phe551= | |
| XM_011516185.1:c.2373C>T | XP_011514487.1:p.Phe791= | |
| XM_011516186.1:c.2673C>T | XP_011514488.1:p.Phe891= | |
| XM_011516185.2:c.2373C>T | XP_011514487.1:p.Phe791= | |
| XM_011516186.3:c.2673C>T | XP_011514488.1:p.Phe891= | |
| XM_017012195.1:c.2523C>T | XP_016867684.1:p.Phe841= | |
| XM_017012196.1:c.2496C>T | XP_016867685.1:p.Phe832= | |
| NM_000238.4:c.2673C>T MANE Select | NP_000229.1:p.Phe891= | |
| NM_172057.3:c.1653C>T | NP_742054.1:p.Phe551= |