Linked Data
dbSNP Id:
rs11820589
ExAC:
11:116633862 G / A
gnomAD v2:
11-116633862-G-A
gnomAD v3:
11-116763146-G-A
gnomAD v4:
11-116763146-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116763146G>A , CM000673.2:g.116763146G>A | GRCh38 |
| NC_000011.9:g.116633862G>A , CM000673.1:g.116633862G>A | GRCh37 |
| NC_000011.8:g.116139072G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260210.5:c.443C>T MANE Select | ENSP00000260210.3:p.Pro148Leu | |
| ENST00000260210.4:c.443C>T | ENSP00000260210.3:p.Pro148Leu | |
| ENST00000375445.7:c.443C>T | ENSP00000364594.3:p.Pro148Leu | |
| NM_001159736.1:c.443C>T | NP_001153208.1:p.Pro148Leu | |
| NM_032725.3:c.443C>T | NP_116114.1:p.Pro148Leu | |
| XM_011543035.1:c.344C>T | XP_011541337.1:p.Pro115Leu | |
| XM_011543035.2:c.344C>T | XP_011541337.1:p.Pro115Leu | |
| NM_032725.4:c.443C>T MANE Select | NP_116114.1:p.Pro148Leu | |
| NM_001159736.2:c.443C>T | NP_001153208.1:p.Pro148Leu |