Linked Data
ClinVar Variation Id:
6689
dbSNP Id:
rs121434430
ExAC:
10:17083159 G / A
gnomAD v2:
10-17083159-G-A
gnomAD v3:
10-17041160-G-A
gnomAD v4:
10-17041160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17041160G>A , CM000672.2:g.17041160G>A | GRCh38 |
| NC_000010.10:g.17083159G>A , CM000672.1:g.17083159G>A | GRCh37 |
| NC_000010.9:g.17123165G>A | NCBI36 |
| NG_008967.1:g.93658C>T , LRG_540:g.93658C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.3890C>T MANE Select | ENSP00000367064.4:p.Pro1297Leu | |
| ENST00000377833.8:c.3890C>T | ENSP00000367064.4:p.Pro1297Leu | |
| NM_001081.3:c.3890C>T , LRG_540t1:c.3890C>T | NP_001072.2:p.Pro1297Leu | |
| XM_011519708.1:c.3890C>T | XP_011518010.1:p.Pro1297Leu | |
| XM_011519708.2:c.3890C>T | XP_011518010.1:p.Pro1297Leu | |
| NM_001081.4:c.3890C>T MANE Select | NP_001072.2:p.Pro1297Leu |