Linked Data
ClinVar Variation Id:
651422
dbSNP Id:
rs866657878
gnomAD v2:
7-150644515-G-A
gnomAD v4:
7-150947427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947427G>A , CM000669.2:g.150947427G>A | GRCh38 |
| NC_000007.13:g.150644515G>A , CM000669.1:g.150644515G>A | GRCh37 |
| NC_000007.12:g.150275448G>A | NCBI36 |
| NG_008916.1:g.35500C>T , LRG_288:g.35500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3886C>T | ||
| ENST00000262186.10:c.3053C>T MANE Select | ENSP00000262186.5:p.Pro1018Leu | |
| ENST00000330883.9:c.2033C>T | ENSP00000328531.4:p.Pro678Leu | |
| ENST00000262186.9:c.3053C>T | ENSP00000262186.5:p.Pro1018Leu | |
| ENST00000330883.8:c.2033C>T | ENSP00000328531.4:p.Pro678Leu | |
| NM_000238.3:c.3053C>T , LRG_288t1:c.3053C>T | NP_000229.1:p.Pro1018Leu | |
| NM_172057.2:c.2033C>T , LRG_288t3:c.2033C>T | NP_742054.1:p.Pro678Leu | |
| XM_011516185.1:c.2753C>T | XP_011514487.1:p.Pro918Leu | |
| XM_011516186.1:c.*133C>T | XP_011514488.1:n.*133C>T | |
| XM_011516185.2:c.2753C>T | XP_011514487.1:p.Pro918Leu | |
| XM_011516186.3:c.*133C>T | XP_011514488.1:n.*133C>T | |
| XM_017012195.1:c.2903C>T | XP_016867684.1:p.Pro968Leu | |
| XM_017012196.1:c.2876C>T | XP_016867685.1:p.Pro959Leu | |
| NM_000238.4:c.3053C>T MANE Select | NP_000229.1:p.Pro1018Leu | |
| NM_172057.3:c.2033C>T | NP_742054.1:p.Pro678Leu |