Linked Data
ClinVar Variation Id:
163623
dbSNP Id:
rs371947306
ExAC:
5:90124769 G / T
gnomAD v2:
5-90124769-G-T
gnomAD v3:
5-90828952-G-T
gnomAD v4:
5-90828952-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90828952G>T , CM000667.2:g.90828952G>T | GRCh38 |
| NC_000005.9:g.90124769G>T , CM000667.1:g.90124769G>T | GRCh37 |
| NC_000005.8:g.90160525G>T | NCBI36 |
| NG_007083.1:g.275153G>T | |
| NG_007083.2:g.304609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16377G>T MANE Select | ENSP00000384582.2:p.Gln5459His | |
| ENST00000425867.3:c.5331G>T | ENSP00000392618.3:p.Gln1777His | |
| ENST00000638510.1:n.3644G>T | ||
| ENST00000639431.1:c.265+152743G>T | ENSP00000491057.1:n.265+152743G>T | |
| ENST00000640061.1:n.128+6770G>T | ||
| ENST00000640407.1:c.2826G>T | ENSP00000491425.1:n.2826G>T | |
| ENST00000405460.6:c.16377G>T | ENSP00000384582.2:p.Gln5459His | |
| ENST00000425867.2:c.3360G>T | ENSP00000392618.2:p.Gln1120His | |
| NM_032119.3:c.16377G>T | NP_115495.3:p.Gln5459His | |
| NR_003149.1:n.16390G>T | ||
| XM_011543675.1:c.16374G>T | XP_011541977.1:p.Gln5458His | |
| XM_011543676.1:c.16296G>T | XP_011541978.1:p.Gln5432His | |
| XM_011543677.1:c.13680G>T | XP_011541979.1:p.Gln4560His | |
| NM_032119.4:c.16377G>T MANE Select | NP_115495.3:p.Gln5459His | |
| XM_017009963.2:c.16398G>T | XP_016865452.1:p.Gln5466His | |
| XM_017009964.2:c.16395G>T | XP_016865453.1:p.Gln5465His | |
| XM_017009965.1:c.16395G>T | XP_016865454.1:p.Gln5465His | |
| XM_017009966.2:c.16317G>T | XP_016865455.1:p.Gln5439His | |
| XM_017009967.1:c.16302G>T | XP_016865456.1:p.Gln5434His | |
| XM_017009968.2:c.16218G>T | XP_016865457.1:p.Gln5406His | |
| XM_017009969.2:c.16398G>T | XP_016865458.1:p.Gln5466His | |
| XM_017009972.1:c.9516G>T | XP_016865461.1:p.Gln3172His | |
| XM_017009973.1:c.9495G>T | XP_016865462.1:p.Gln3165His | |
| NR_003149.2:n.16393G>T |