Linked Data
dbSNP Id:
rs1432892470
gnomAD v2:
5-56177588-G-A
gnomAD v3:
5-56881761-G-A
gnomAD v4:
5-56881761-G-A
COSMIC:
COSM3855704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881761G>A , CM000667.2:g.56881761G>A | GRCh38 |
| NC_000005.9:g.56177588G>A , CM000667.1:g.56177588G>A | GRCh37 |
| NC_000005.8:g.56213345G>A | NCBI36 |
| NG_031884.1:g.71689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2561G>A MANE Select | ENSP00000382423.3:p.Arg854His | |
| ENST00000399503.3:c.2561G>A | ENSP00000382423.3:p.Arg854His | |
| NM_005921.1:c.2561G>A | NP_005912.1:p.Arg854His | |
| XM_005248519.3:c.2183G>A | XP_005248576.2:p.Arg728His | |
| XM_011543406.1:c.2306G>A | XP_011541708.1:p.Arg769His | |
| XM_011543407.1:c.2282G>A | XP_011541709.1:p.Arg761His | |
| XM_011543408.1:c.2561G>A | XP_011541710.1:p.Arg854His | |
| XM_017009484.1:c.2150G>A | XP_016864973.1:p.Arg717His | |
| XM_017009485.1:c.2072G>A | XP_016864974.1:p.Arg691His | |
| XR_001742068.2:n.2592G>A | ||
| NM_005921.2:c.2561G>A MANE Select | NP_005912.1:p.Arg854His |