Linked Data
ClinVar Variation Id:
352335
ClinVar RCV Id:
RCV000282447
RCV000424458
RCV000731143
RCV000770208
RCV000392260
RCV001084791
RCV003168546
RCV003970028
dbSNP Id:
rs368838376
ExAC:
5:156074481 G / A
gnomAD v2:
5-156074481-G-A
gnomAD v3:
5-156647471-G-A
gnomAD v4:
5-156647471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156647471G>A , CM000667.2:g.156647471G>A | GRCh38 |
| NC_000005.9:g.156074481G>A , CM000667.1:g.156074481G>A | GRCh37 |
| NC_000005.8:g.156007059G>A | NCBI36 |
| NG_008693.2:g.782128G>A , LRG_205:g.782128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.510G>A MANE Select | ENSP00000338343.4:p.Glu170= | |
| ENST00000337851.8:c.510G>A | ENSP00000338343.4:p.Glu170= | |
| ENST00000435422.7:c.507G>A | ENSP00000403003.2:p.Glu169= | |
| ENST00000517913.5:c.510G>A | ENSP00000429378.1:p.Glu170= | |
| NM_000337.5:c.510G>A , LRG_205t1:c.510G>A | NP_000328.2:p.Glu170= | |
| NM_001128209.1:c.507G>A | NP_001121681.1:p.Glu169= | |
| NM_172244.2:c.510G>A | NP_758447.1:p.Glu170= | |
| XM_005265966.3:c.510G>A | XP_005266023.1:p.Glu170= | |
| XM_005265967.1:c.502+52420G>A | XP_005266024.1:n.502+52420G>A | |
| XM_006714911.2:c.510G>A | XP_006714974.1:p.Glu170= | |
| XM_011534621.1:c.507G>A | XP_011532923.1:p.Glu169= | |
| XM_005265966.5:c.510G>A | XP_005266023.1:p.Glu170= | |
| XM_005265967.2:c.502+52420G>A | XP_005266024.1:n.502+52420G>A | |
| XM_011534621.2:c.507G>A | XP_011532923.1:p.Glu169= | |
| XM_017009723.2:c.510G>A | XP_016865212.1:p.Glu170= | |
| XM_017009724.1:c.510G>A | XP_016865213.1:p.Glu170= | |
| NM_001128209.2:c.507G>A | NP_001121681.1:p.Glu169= | |
| NM_172244.3:c.510G>A | NP_758447.1:p.Glu170= | |
| NM_000337.6:c.510G>A MANE Select | NP_000328.2:p.Glu170= |