Linked Data
ClinVar Variation Id:
227390
dbSNP Id:
rs202067248
ExAC:
5:90070067 G / A
gnomAD v2:
5-90070067-G-A
gnomAD v3:
5-90774250-G-A
gnomAD v4:
5-90774250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90774250G>A , CM000667.2:g.90774250G>A | GRCh38 |
| NC_000005.9:g.90070067G>A , CM000667.1:g.90070067G>A | GRCh37 |
| NC_000005.8:g.90105823G>A | NCBI36 |
| NG_007083.1:g.220451G>A | |
| NG_007083.2:g.249907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12350G>A MANE Select | ENSP00000384582.2:p.Arg4117His | |
| ENST00000425867.3:c.1304G>A | ENSP00000392618.3:p.Arg435His | |
| ENST00000639431.1:c.265+98041G>A | ENSP00000491057.1:n.265+98041G>A | |
| ENST00000640464.1:n.2769G>A | ||
| ENST00000640729.1:n.927G>A | ||
| ENST00000405460.6:c.12350G>A | ENSP00000384582.2:p.Arg4117His | |
| NM_032119.3:c.12350G>A | NP_115495.3:p.Arg4117His | |
| NR_003149.1:n.12363G>A | ||
| XM_011543675.1:c.12347G>A | XP_011541977.1:p.Arg4116His | |
| XM_011543676.1:c.12269G>A | XP_011541978.1:p.Arg4090His | |
| XM_011543677.1:c.9653G>A | XP_011541979.1:p.Arg3218His | |
| XM_011543678.1:c.12350G>A | XP_011541980.1:p.Arg4117His | |
| NM_032119.4:c.12350G>A MANE Select | NP_115495.3:p.Arg4117His | |
| XM_017009963.2:c.12371G>A | XP_016865452.1:p.Arg4124His | |
| XM_017009964.2:c.12368G>A | XP_016865453.1:p.Arg4123His | |
| XM_017009965.1:c.12368G>A | XP_016865454.1:p.Arg4123His | |
| XM_017009966.2:c.12290G>A | XP_016865455.1:p.Arg4097His | |
| XM_017009967.1:c.12275G>A | XP_016865456.1:p.Arg4092His | |
| XM_017009968.2:c.12371G>A | XP_016865457.1:p.Arg4124His | |
| XM_017009969.2:c.12371G>A | XP_016865458.1:p.Arg4124His | |
| XM_017009970.2:c.12371G>A | XP_016865459.1:p.Arg4124His | |
| XM_017009971.2:c.12371G>A | XP_016865460.1:p.Arg4124His | |
| XM_017009972.1:c.5489G>A | XP_016865461.1:p.Arg1830His | |
| XM_017009973.1:c.5468G>A | XP_016865462.1:p.Arg1823His | |
| NR_003149.2:n.12366G>A |