Linked Data
ClinVar Variation Id:
18442
ClinVar RCV Id:
RCV000006931
dbSNP Id:
rs267606694
gnomAD v3:
15-63345479-C-T
gnomAD v4:
15-63345479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63345479C>T , CM000677.2:g.63345479C>T | GRCh38 |
| NC_000015.9:g.63637678C>T , CM000677.1:g.63637678C>T | GRCh37 |
| NC_000015.8:g.61424731C>T | NCBI36 |
| NG_028022.1:g.41398G>A | |
| NG_028022.2:g.41688G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000178638.8:c.427G>A MANE Select | ENSP00000178638.3:p.Glu143Lys | |
| ENST00000178638.7:c.427G>A | ENSP00000178638.3:p.Glu143Lys | |
| ENST00000344366.7:c.427G>A | ENSP00000343088.3:p.Glu143Lys | |
| ENST00000422263.2:c.247G>A | ENSP00000403028.2:p.Glu83Lys | |
| NM_001218.4:c.427G>A | NP_001209.1:p.Glu143Lys | |
| NM_001293642.1:c.247G>A | NP_001280571.1:p.Glu83Lys | |
| NM_206925.2:c.427G>A | NP_996808.1:p.Glu143Lys | |
| NR_135511.1:n.920G>A | ||
| NM_001218.5:c.427G>A MANE Select | NP_001209.1:p.Glu143Lys | |
| NR_135511.2:n.600G>A | ||
| NM_001293642.2:c.247G>A | NP_001280571.1:p.Glu83Lys | |
| NM_206925.3:c.427G>A | NP_996808.1:p.Glu143Lys |