Linked Data
ClinVar Variation Id:
18190
ClinVar RCV Id:
RCV000019831
dbSNP Id:
rs75522063
PubMed:
PMID:2404284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408750G>A , CM000666.2:g.73408750G>A | GRCh38 |
| NC_000004.11:g.74274467G>A , CM000666.1:g.74274467G>A | GRCh37 |
| NC_000004.10:g.74493331G>A | NCBI36 |
| NG_009291.1:g.9496G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.427G>A MANE Select | ENSP00000295897.4:p.Glu143Lys | |
| ENST00000295897.8:c.427G>A | ENSP00000295897.4:p.Glu143Lys | |
| ENST00000401494.7:c.138-605G>A | ENSP00000384695.3:n.138-605G>A | |
| ENST00000415165.6:c.138-3246G>A | ENSP00000401820.2:n.138-3246G>A | |
| ENST00000441319.5:c.433G>A | ENSP00000392541.1:p.Glu145Lys | |
| ENST00000476441.6:c.80-605G>A | ENSP00000423727.1:n.80-605G>A | |
| ENST00000503124.5:c.33-605G>A | ENSP00000421027.1:n.33-605G>A | |
| ENST00000505649.5:n.113G>A | ||
| ENST00000509063.5:c.427G>A | ENSP00000422784.1:p.Glu143Lys | |
| ENST00000510166.5:n.463G>A | ||
| ENST00000514786.1:n.396G>A | ||
| ENST00000515133.5:n.468G>A | ||
| ENST00000621085.4:c.427G>A | ENSP00000483421.1:p.Glu143Lys | |
| ENST00000621628.4:c.427G>A | ENSP00000480485.1:p.Glu143Lys | |
| NM_000477.5:c.427G>A | NP_000468.1:p.Glu143Lys | |
| NM_000477.6:c.427G>A | NP_000468.1:p.Glu143Lys | |
| NM_000477.7:c.427G>A MANE Select | NP_000468.1:p.Glu143Lys |