Linked Data
ClinVar Variation Id:
698027
dbSNP Id:
rs45606432
ExAC:
2:190428384 G / A
gnomAD v2:
2-190428384-G-A
gnomAD v3:
2-189563658-G-A
gnomAD v4:
2-189563658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563658G>A , CM000664.2:g.189563658G>A | GRCh38 |
| NC_000002.11:g.190428384G>A , CM000664.1:g.190428384G>A | GRCh37 |
| NC_000002.10:g.190136629G>A | NCBI36 |
| NG_009027.1:g.22154C>T , LRG_837:g.22154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1328C>T MANE Select | ENSP00000261024.3:p.Pro443Leu | |
| ENST00000261024.6:c.1328C>T | ENSP00000261024.2:p.Pro443Leu | |
| NM_014585.5:c.1328C>T , LRG_837t1:c.1328C>T | NP_055400.1:p.Pro443Leu | |
| XM_005246505.1:c.1208C>T | XP_005246562.1:p.Pro403Leu | |
| XM_005246505.2:c.1208C>T | XP_005246562.1:p.Pro403Leu | |
| XM_017003938.2:c.1208C>T | XP_016859427.1:p.Pro403Leu | |
| NM_014585.6:c.1328C>T MANE Select | NP_055400.1:p.Pro443Leu |