Linked Data
ClinVar Variation Id:
46270
dbSNP Id:
rs41304892
ExAC:
5:90086955 G / A
gnomAD v2:
5-90086955-G-A
gnomAD v3:
5-90791138-G-A
gnomAD v4:
5-90791138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791138G>A , CM000667.2:g.90791138G>A | GRCh38 |
| NC_000005.9:g.90086955G>A , CM000667.1:g.90086955G>A | GRCh37 |
| NC_000005.8:g.90122711G>A | NCBI36 |
| NG_007083.1:g.237339G>A | |
| NG_007083.2:g.266795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14309G>A MANE Select | ENSP00000384582.2:p.Arg4770His | |
| ENST00000425867.3:c.3263G>A | ENSP00000392618.3:p.Arg1088His | |
| ENST00000638510.1:n.1576G>A | ||
| ENST00000638585.1:n.75G>A | ||
| ENST00000638975.1:c.938G>A | ENSP00000492630.1:p.Arg313His | |
| ENST00000639431.1:c.265+114929G>A | ENSP00000491057.1:n.265+114929G>A | |
| ENST00000640407.1:c.719G>A | ENSP00000491425.1:p.Arg240His | |
| ENST00000405460.6:c.14309G>A | ENSP00000384582.2:p.Arg4770His | |
| ENST00000425867.2:c.1292G>A | ENSP00000392618.2:p.Arg431His | |
| NM_032119.3:c.14309G>A | NP_115495.3:p.Arg4770His | |
| NR_003149.1:n.14322G>A | ||
| XM_011543675.1:c.14306G>A | XP_011541977.1:p.Arg4769His | |
| XM_011543676.1:c.14228G>A | XP_011541978.1:p.Arg4743His | |
| XM_011543677.1:c.11612G>A | XP_011541979.1:p.Arg3871His | |
| XM_011543678.1:c.14309G>A | XP_011541980.1:p.Arg4770His | |
| NM_032119.4:c.14309G>A MANE Select | NP_115495.3:p.Arg4770His | |
| XM_017009963.2:c.14330G>A | XP_016865452.1:p.Arg4777His | |
| XM_017009964.2:c.14327G>A | XP_016865453.1:p.Arg4776His | |
| XM_017009965.1:c.14327G>A | XP_016865454.1:p.Arg4776His | |
| XM_017009966.2:c.14249G>A | XP_016865455.1:p.Arg4750His | |
| XM_017009967.1:c.14234G>A | XP_016865456.1:p.Arg4745His | |
| XM_017009968.2:c.14330G>A | XP_016865457.1:p.Arg4777His | |
| XM_017009969.2:c.14330G>A | XP_016865458.1:p.Arg4777His | |
| XM_017009970.2:c.14330G>A | XP_016865459.1:p.Arg4777His | |
| XM_017009971.2:c.14330G>A | XP_016865460.1:p.Arg4777His | |
| XM_017009972.1:c.7448G>A | XP_016865461.1:p.Arg2483His | |
| XM_017009973.1:c.7427G>A | XP_016865462.1:p.Arg2476His | |
| NR_003149.2:n.14325G>A |