Linked Data
ClinVar Variation Id:
1493405
ClinVar RCV Id:
RCV001984347
dbSNP Id:
rs761829607
ExAC:
5:39311256 G / A
gnomAD v2:
5-39311256-G-A
gnomAD v3:
5-39311154-G-A
gnomAD v4:
5-39311154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39311154G>A , CM000667.2:g.39311154G>A | GRCh38 |
| NC_000005.9:g.39311256G>A , CM000667.1:g.39311256G>A | GRCh37 |
| NC_000005.8:g.39347013G>A | NCBI36 |
| NG_009894.1:g.58400C>T , LRG_32:g.58400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509186.6:c.1022C>T | ENSP00000512235.1:p.Ala341Val | |
| ENST00000695880.1:c.1094C>T | ENSP00000512236.1:p.Ala365Val | |
| ENST00000695881.1:c.1094C>T | ENSP00000512237.1:p.Ala365Val | |
| ENST00000695882.1:n.321C>T | ||
| ENST00000263408.5:c.1094C>T MANE Select | ENSP00000263408.4:p.Ala365Val | |
| ENST00000263408.4:c.1094C>T | ENSP00000263408.4:p.Ala365Val | |
| NM_001737.3:c.1094C>T , LRG_32t1:c.1094C>T | NP_001728.1:p.Ala365Val | |
| NM_001737.4:c.1094C>T | NP_001728.1:p.Ala365Val | |
| NM_001737.5:c.1094C>T MANE Select | NP_001728.1:p.Ala365Val |