Linked Data
dbSNP Id:
rs1736420372
gnomAD v3:
4-157136804-G-A
gnomAD v4:
4-157136804-G-A
MyVariant Identifiers:
chr4:g.158057956G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157136804G>A , CM000666.2:g.157136804G>A | GRCh38 |
| NC_000004.11:g.158057956G>A , CM000666.1:g.158057956G>A | GRCh37 |
| NC_000004.10:g.158277406G>A | NCBI36 |
| NG_015823.1:g.65680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.528G>A MANE Select | ENSP00000264428.4:p.Arg176= | |
| ENST00000264428.8:c.528G>A | ENSP00000264428.4:p.Arg176= | |
| ENST00000506411.5:c.*448G>A | ENSP00000422039.1:n.*448G>A | |
| ENST00000509282.1:c.528G>A | ENSP00000427186.1:p.Arg176= | |
| ENST00000510970.1:n.335G>A | ||
| ENST00000512619.5:c.123-33628G>A | ENSP00000425433.1:n.123-33628G>A | |
| ENST00000541722.5:c.528G>A | ENSP00000441873.1:p.Arg176= | |
| NM_000824.4:c.528G>A | NP_000815.1:p.Arg176= | |
| NM_001166060.1:c.528G>A | NP_001159532.1:p.Arg176= | |
| NM_001166061.1:c.528G>A | NP_001159533.1:p.Arg176= | |
| XM_011531876.1:c.234G>A | XP_011530178.1:p.Arg78= | |
| XM_017008034.1:c.234G>A | XP_016863523.1:p.Arg78= | |
| XM_017008035.2:c.528G>A | XP_016863524.1:p.Arg176= | |
| XR_001741207.2:n.709G>A | ||
| XR_002959723.1:n.709G>A | ||
| NM_000824.5:c.528G>A MANE Select | NP_000815.1:p.Arg176= | |
| NM_001166060.2:c.528G>A | NP_001159532.1:p.Arg176= | |
| NM_001166061.2:c.528G>A | NP_001159533.1:p.Arg176= |