Linked Data
ClinVar Variation Id:
918513
dbSNP Id:
rs1435096286
gnomAD v3:
3-46859530-C-T
gnomAD v4:
3-46859530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859530C>T , CM000665.2:g.46859530C>T | GRCh38 |
| NC_000003.11:g.46901020C>T , CM000665.1:g.46901020C>T | GRCh37 |
| NC_000003.10:g.46876024C>T | NCBI36 |
| NG_007555.2:g.27640G>A , LRG_395:g.27640G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431168.2:c.426G>A | ENSP00000393455.2:p.Lys142= | |
| ENST00000292327.6:c.426G>A MANE Select | ENSP00000292327.4:p.Lys142= | |
| ENST00000653454.1:c.426G>A | ENSP00000499624.1:p.Lys142= | |
| ENST00000654597.1:c.426G>A | ENSP00000499406.1:p.Lys142= | |
| ENST00000655244.1:n.648G>A | ||
| ENST00000662933.1:c.426G>A | ENSP00000499577.1:p.Lys142= | |
| ENST00000664891.1:n.384G>A | ||
| ENST00000292327.4:c.426G>A | ENSP00000292327.4:p.Lys142= | |
| ENST00000395869.5:c.426G>A | ENSP00000379210.1:p.Lys142= | |
| NM_000258.2:c.426G>A , LRG_395t1:c.426G>A | NP_000249.1:p.Lys142= | |
| NM_000258.3:c.426G>A MANE Select | NP_000249.1:p.Lys142= |