Linked Data
ClinVar Variation Id:
517596
dbSNP Id:
rs904746365
gnomAD v2:
19-3586945-A-C
gnomAD v4:
19-3586947-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586947A>C , CM000681.2:g.3586947A>C | GRCh38 |
| NC_000019.9:g.3586945A>C , CM000681.1:g.3586945A>C | GRCh37 |
| NC_000019.8:g.3537945A>C | NCBI36 |
| NG_031943.1:g.6377A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.545A>C MANE Select | ENSP00000493901.2:p.Lys182Thr | |
| ENST00000644946.1:c.545A>C | ENSP00000495068.1:p.Lys182Thr | |
| ENST00000322315.5:c.545A>C | ENSP00000319254.5:p.Lys182Thr | |
| NM_133261.2:c.545A>C | NP_573568.1:p.Lys182Thr | |
| XM_005259492.2:c.545A>C | XP_005259549.1:p.Lys182Thr | |
| XM_005259492.3:c.545A>C | XP_005259549.1:p.Lys182Thr | |
| NM_133261.3:c.545A>C MANE Select | NP_573568.1:p.Lys182Thr |