Linked Data
dbSNP Id:
rs759487851
ExAC:
2:190428439 C / T
gnomAD v2:
2-190428439-C-T
gnomAD v4:
2-189563713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563713C>T , CM000664.2:g.189563713C>T | GRCh38 |
| NC_000002.11:g.190428439C>T , CM000664.1:g.190428439C>T | GRCh37 |
| NC_000002.10:g.190136684C>T | NCBI36 |
| NG_009027.1:g.22099G>A , LRG_837:g.22099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1273G>A MANE Select | ENSP00000261024.3:p.Glu425Lys | |
| ENST00000261024.6:c.1273G>A | ENSP00000261024.2:p.Glu425Lys | |
| NM_014585.5:c.1273G>A , LRG_837t1:c.1273G>A | NP_055400.1:p.Glu425Lys | |
| XM_005246505.1:c.1153G>A | XP_005246562.1:p.Glu385Lys | |
| XM_005246505.2:c.1153G>A | XP_005246562.1:p.Glu385Lys | |
| XM_017003938.2:c.1153G>A | XP_016859427.1:p.Glu385Lys | |
| NM_014585.6:c.1273G>A MANE Select | NP_055400.1:p.Glu425Lys |