Linked Data
ClinVar Variation Id:
165234
dbSNP Id:
rs727503423
ExAC:
5:156022053 G / A
gnomAD v2:
5-156022053-G-A
gnomAD v3:
5-156595043-G-A
gnomAD v4:
5-156595043-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156595043G>A , CM000667.2:g.156595043G>A | GRCh38 |
| NC_000005.9:g.156022053G>A , CM000667.1:g.156022053G>A | GRCh37 |
| NC_000005.8:g.155954631G>A | NCBI36 |
| NG_008693.2:g.729700G>A , LRG_205:g.729700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.494G>A MANE Select | ENSP00000338343.4:p.Arg165Gln | |
| ENST00000337851.8:c.494G>A | ENSP00000338343.4:p.Arg165Gln | |
| ENST00000435422.7:c.491G>A | ENSP00000403003.2:p.Arg164Gln | |
| ENST00000517913.5:c.494G>A | ENSP00000429378.1:p.Arg165Gln | |
| NM_000337.5:c.494G>A , LRG_205t1:c.494G>A | NP_000328.2:p.Arg165Gln | |
| NM_001128209.1:c.491G>A | NP_001121681.1:p.Arg164Gln | |
| NM_172244.2:c.494G>A | NP_758447.1:p.Arg165Gln | |
| XM_005265966.3:c.494G>A | XP_005266023.1:p.Arg165Gln | |
| XM_005265967.1:c.494G>A | XP_005266024.1:p.Arg165Gln | |
| XM_006714911.2:c.494G>A | XP_006714974.1:p.Arg165Gln | |
| XM_011534621.1:c.491G>A | XP_011532923.1:p.Arg164Gln | |
| XM_005265966.5:c.494G>A | XP_005266023.1:p.Arg165Gln | |
| XM_005265967.2:c.494G>A | XP_005266024.1:p.Arg165Gln | |
| XM_011534621.2:c.491G>A | XP_011532923.1:p.Arg164Gln | |
| XM_017009723.2:c.494G>A | XP_016865212.1:p.Arg165Gln | |
| XM_017009724.1:c.494G>A | XP_016865213.1:p.Arg165Gln | |
| NM_001128209.2:c.491G>A | NP_001121681.1:p.Arg164Gln | |
| NM_172244.3:c.494G>A | NP_758447.1:p.Arg165Gln | |
| NM_000337.6:c.494G>A MANE Select | NP_000328.2:p.Arg165Gln |