Linked Data
dbSNP Id:
rs374078745
ExAC:
16:16110472 C / T
gnomAD v2:
16-16110472-C-T
gnomAD v3:
16-16016615-C-T
gnomAD v4:
16-16016615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016615C>T , CM000678.2:g.16016615C>T | GRCh38 |
| NC_000016.9:g.16110472C>T , CM000678.1:g.16110472C>T | GRCh37 |
| NC_000016.8:g.16017973C>T | NCBI36 |
| NG_028268.1:g.72039C>T | |
| NG_028268.2:g.72039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.609C>T | ENSP00000382340.4:p.His203= | |
| ENST00000399410.8:c.609C>T MANE Select | ENSP00000382342.3:p.His203= | |
| ENST00000572882.3:c.609C>T | ENSP00000461615.2:p.His203= | |
| ENST00000574224.2:n.684C>T | ||
| ENST00000677164.1:c.489+1987C>T | ENSP00000502873.1:n.489+1987C>T | |
| ENST00000678422.1:c.609C>T | ENSP00000503954.1:p.His203= | |
| ENST00000679043.1:n.561C>T | ||
| ENST00000399408.6:c.-370C>T | ENSP00000382340.3:n.-370C>T | |
| ENST00000399410.7:c.609C>T | ENSP00000382342.3:p.His203= | |
| ENST00000572882.2:c.304C>T | ||
| ENST00000574224.1:n.209C>T | ||
| NM_004996.3:c.609C>T | NP_004987.2:p.His203= | |
| XM_011522497.1:c.585C>T | XP_011520799.1:p.His195= | |
| XM_011522498.1:c.663C>T | XP_011520800.1:p.His221= | |
| XM_011522498.2:c.663C>T | XP_011520800.1:p.His221= | |
| XM_017023237.1:c.663C>T | XP_016878726.1:p.His221= | |
| XM_017023238.1:c.543+1987C>T | XP_016878727.1:n.543+1987C>T | |
| XM_017023239.1:c.525C>T | XP_016878728.1:p.His175= | |
| XM_017023240.1:c.663C>T | XP_016878729.1:p.His221= | |
| XM_017023241.1:c.405+6714C>T | XP_016878730.1:n.405+6714C>T | |
| XM_017023242.1:c.663C>T | XP_016878731.1:p.His221= | |
| XM_017023243.2:c.663C>T | XP_016878732.1:p.His221= | |
| NM_004996.4:c.609C>T MANE Select | NP_004987.2:p.His203= |