Linked Data
dbSNP Id:
rs769793153
ExAC:
16:2161722 T / C
gnomAD v2:
16-2161722-T-C
gnomAD v4:
16-2111721-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111721T>C , CM000678.2:g.2111721T>C | GRCh38 |
| NC_000016.9:g.2161722T>C , CM000678.1:g.2161722T>C | GRCh37 |
| NC_000016.8:g.2101723T>C | NCBI36 |
| NG_008617.1:g.29178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3446A>G MANE Select | ENSP00000262304.4:p.His1149Arg | |
| ENST00000262304.8:c.3446A>G | ENSP00000262304.4:p.His1149Arg | |
| ENST00000415938.7:n.310+619A>G | ||
| ENST00000423118.5:c.3446A>G | ENSP00000399501.1:p.His1149Arg | |
| ENST00000468674.5:n.430+619A>G | ||
| ENST00000469241.2:n.396A>G | ||
| ENST00000483024.1:c.233+95A>G | ||
| ENST00000483731.5:n.790+619A>G | ||
| ENST00000488185.2:c.473-3363A>G | ||
| ENST00000565639.6:n.773+619A>G | ||
| ENST00000568591.5:c.2226+619A>G | ENSP00000457162.1:n.2226+619A>G | |
| ENST00000569983.5:n.421+619A>G | ||
| NM_000296.3:c.3446A>G | NP_000287.3:p.His1149Arg | |
| NM_001009944.2:c.3446A>G | NP_001009944.2:p.His1149Arg | |
| XM_005255370.2:c.401A>G | XP_005255427.1:p.His134Arg | |
| XM_011522525.1:c.3524A>G | XP_011520827.1:p.His1175Arg | |
| XM_011522526.1:c.3524A>G | XP_011520828.1:p.His1175Arg | |
| XM_011522527.1:c.3524A>G | XP_011520829.1:p.His1175Arg | |
| XM_011522528.1:c.3500A>G | XP_011520830.1:p.His1167Arg | |
| XM_011522529.1:c.3500A>G | XP_011520831.1:p.His1167Arg | |
| XM_011522530.1:c.3470A>G | XP_011520832.1:p.His1157Arg | |
| XM_011522531.1:c.3452A>G | XP_011520833.1:p.His1151Arg | |
| XM_011522532.1:c.3398A>G | XP_011520834.1:p.His1133Arg | |
| XM_011522533.1:c.3317A>G | XP_011520835.1:p.His1106Arg | |
| XM_011522534.1:c.3260A>G | XP_011520836.1:p.His1087Arg | |
| XM_011522535.1:c.1346A>G | XP_011520837.1:p.His449Arg | |
| XM_011522536.1:c.3524A>G | XP_011520838.1:p.His1175Arg | |
| XM_011522537.1:c.524A>G | XP_011520839.1:p.His175Arg | |
| XR_932867.1:n.3539A>G | ||
| XR_932868.1:n.3539A>G | ||
| XR_932869.1:n.3539A>G | ||
| XR_932870.1:n.3539A>G | ||
| XM_005255370.3:c.401A>G | XP_005255427.1:p.His134Arg | |
| XM_011522528.3:c.3500A>G | XP_011520830.1:p.His1167Arg | |
| XM_011522529.2:c.3500A>G | XP_011520831.1:p.His1167Arg | |
| XM_011522537.2:c.524A>G | XP_011520839.1:p.His175Arg | |
| XM_024450298.1:c.3566A>G | XP_024306066.1:p.His1189Arg | |
| XM_024450299.1:c.3494A>G | XP_024306067.1:p.His1165Arg | |
| XM_024450300.1:c.3356A>G | XP_024306068.1:p.His1119Arg | |
| XM_024450301.1:c.1442A>G | XP_024306069.1:p.His481Arg | |
| NM_000296.4:c.3446A>G | NP_000287.4:p.His1149Arg | |
| NM_001009944.3:c.3446A>G MANE Select | NP_001009944.3:p.His1149Arg |