Linked Data
ClinVar Variation Id:
3213455
ClinVar RCV Id:
RCV004506358
dbSNP Id:
rs565256491
ExAC:
16:2164529 C / T
gnomAD v2:
16-2164529-C-T
gnomAD v3:
16-2114528-C-T
gnomAD v4:
16-2114528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2114528C>T , CM000678.2:g.2114528C>T | GRCh38 |
| NC_000016.9:g.2164529C>T , CM000678.1:g.2164529C>T | GRCh37 |
| NC_000016.8:g.2104530C>T | NCBI36 |
| NG_008617.1:g.26371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2495G>A MANE Select | ENSP00000262304.4:p.Arg832His | |
| ENST00000262304.8:c.2495G>A | ENSP00000262304.4:p.Arg832His | |
| ENST00000423118.5:c.2495G>A | ENSP00000399501.1:p.Arg832His | |
| ENST00000488185.2:c.472+2961G>A | ||
| ENST00000568591.5:c.1426G>A | ENSP00000457162.1:n.1426G>A | |
| NM_000296.3:c.2495G>A | NP_000287.3:p.Arg832His | |
| NM_001009944.2:c.2495G>A | NP_001009944.2:p.Arg832His | |
| XM_011522525.1:c.2549G>A | XP_011520827.1:p.Arg850His | |
| XM_011522526.1:c.2549G>A | XP_011520828.1:p.Arg850His | |
| XM_011522527.1:c.2549G>A | XP_011520829.1:p.Arg850His | |
| XM_011522528.1:c.2549G>A | XP_011520830.1:p.Arg850His | |
| XM_011522529.1:c.2549G>A | XP_011520831.1:p.Arg850His | |
| XM_011522530.1:c.2495G>A | XP_011520832.1:p.Arg832His | |
| XM_011522531.1:c.2477G>A | XP_011520833.1:p.Arg826His | |
| XM_011522532.1:c.2423G>A | XP_011520834.1:p.Arg808His | |
| XM_011522533.1:c.2342G>A | XP_011520835.1:p.Arg781His | |
| XM_011522534.1:c.2285G>A | XP_011520836.1:p.Arg762His | |
| XM_011522535.1:c.371G>A | XP_011520837.1:p.Arg124His | |
| XM_011522536.1:c.2549G>A | XP_011520838.1:p.Arg850His | |
| XR_932867.1:n.2564G>A | ||
| XR_932868.1:n.2564G>A | ||
| XR_932869.1:n.2564G>A | ||
| XR_932870.1:n.2564G>A | ||
| XM_005255370.3:c.-555G>A | XP_005255427.1:n.-555G>A | |
| XM_011522528.3:c.2549G>A | XP_011520830.1:p.Arg850His | |
| XM_011522529.2:c.2549G>A | XP_011520831.1:p.Arg850His | |
| XM_024450298.1:c.2495G>A | XP_024306066.1:p.Arg832His | |
| XM_024450299.1:c.2423G>A | XP_024306067.1:p.Arg808His | |
| XM_024450300.1:c.2285G>A | XP_024306068.1:p.Arg762His | |
| XM_024450301.1:c.371G>A | XP_024306069.1:p.Arg124His | |
| NM_000296.4:c.2495G>A | NP_000287.4:p.Arg832His | |
| NM_001009944.3:c.2495G>A MANE Select | NP_001009944.3:p.Arg832His |