Linked Data
ClinVar Variation Id:
879636
dbSNP Id:
rs1311591078
gnomAD v2:
10-121431896-G-A
gnomAD v4:
10-119672384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672384G>A , CM000672.2:g.119672384G>A | GRCh38 |
| NC_000010.10:g.121431896G>A , CM000672.1:g.121431896G>A | GRCh37 |
| NC_000010.9:g.121421886G>A | NCBI36 |
| NG_016125.1:g.26015G>A , LRG_742:g.26015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.637G>A MANE Select | ENSP00000358081.4:p.Glu213Lys | |
| ENST00000369085.7:c.637G>A | ENSP00000358081.3:p.Glu213Lys | |
| ENST00000450186.1:c.463G>A | ENSP00000410036.1:p.Glu155Lys | |
| NM_004281.3:c.637G>A , LRG_742t1:c.637G>A | NP_004272.2:p.Glu213Lys | |
| XM_005270287.1:c.637G>A | XP_005270344.1:p.Glu213Lys | |
| XM_005270287.2:c.637G>A | XP_005270344.1:p.Glu213Lys | |
| NM_004281.4:c.637G>A MANE Select | NP_004272.2:p.Glu213Lys |