Linked Data
dbSNP Id:
rs747848725
ExAC:
16:2161546 C / T
gnomAD v2:
16-2161546-C-T
gnomAD v3:
16-2111545-C-T
gnomAD v4:
16-2111545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111545C>T , CM000678.2:g.2111545C>T | GRCh38 |
| NC_000016.9:g.2161546C>T , CM000678.1:g.2161546C>T | GRCh37 |
| NC_000016.8:g.2101547C>T | NCBI36 |
| NG_008617.1:g.29354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3622G>A MANE Select | ENSP00000262304.4:p.Val1208Ile | |
| ENST00000262304.8:c.3622G>A | ENSP00000262304.4:p.Val1208Ile | |
| ENST00000415938.7:n.310+795G>A | ||
| ENST00000423118.5:c.3622G>A | ENSP00000399501.1:p.Val1208Ile | |
| ENST00000468674.5:n.430+795G>A | ||
| ENST00000469241.2:n.572G>A | ||
| ENST00000483024.1:c.233+271G>A | ||
| ENST00000483731.5:n.790+795G>A | ||
| ENST00000488185.2:c.473-3187G>A | ||
| ENST00000565639.6:n.773+795G>A | ||
| ENST00000568591.5:c.2226+795G>A | ENSP00000457162.1:n.2226+795G>A | |
| ENST00000569983.5:n.421+795G>A | ||
| NM_000296.3:c.3622G>A | NP_000287.3:p.Val1208Ile | |
| NM_001009944.2:c.3622G>A | NP_001009944.2:p.Val1208Ile | |
| XM_005255370.2:c.577G>A | XP_005255427.1:p.Val193Ile | |
| XM_011522525.1:c.3700G>A | XP_011520827.1:p.Val1234Ile | |
| XM_011522526.1:c.3700G>A | XP_011520828.1:p.Val1234Ile | |
| XM_011522527.1:c.3700G>A | XP_011520829.1:p.Val1234Ile | |
| XM_011522528.1:c.3676G>A | XP_011520830.1:p.Val1226Ile | |
| XM_011522529.1:c.3676G>A | XP_011520831.1:p.Val1226Ile | |
| XM_011522530.1:c.3646G>A | XP_011520832.1:p.Val1216Ile | |
| XM_011522531.1:c.3628G>A | XP_011520833.1:p.Val1210Ile | |
| XM_011522532.1:c.3574G>A | XP_011520834.1:p.Val1192Ile | |
| XM_011522533.1:c.3493G>A | XP_011520835.1:p.Val1165Ile | |
| XM_011522534.1:c.3436G>A | XP_011520836.1:p.Val1146Ile | |
| XM_011522535.1:c.1522G>A | XP_011520837.1:p.Val508Ile | |
| XM_011522536.1:c.3700G>A | XP_011520838.1:p.Val1234Ile | |
| XM_011522537.1:c.700G>A | XP_011520839.1:p.Val234Ile | |
| XR_932867.1:n.3715G>A | ||
| XR_932868.1:n.3715G>A | ||
| XR_932869.1:n.3715G>A | ||
| XR_932870.1:n.3715G>A | ||
| XM_005255370.3:c.577G>A | XP_005255427.1:p.Val193Ile | |
| XM_011522528.3:c.3676G>A | XP_011520830.1:p.Val1226Ile | |
| XM_011522529.2:c.3676G>A | XP_011520831.1:p.Val1226Ile | |
| XM_011522537.2:c.700G>A | XP_011520839.1:p.Val234Ile | |
| XM_024450298.1:c.3742G>A | XP_024306066.1:p.Val1248Ile | |
| XM_024450299.1:c.3670G>A | XP_024306067.1:p.Val1224Ile | |
| XM_024450300.1:c.3532G>A | XP_024306068.1:p.Val1178Ile | |
| XM_024450301.1:c.1618G>A | XP_024306069.1:p.Val540Ile | |
| NM_000296.4:c.3622G>A | NP_000287.4:p.Val1208Ile | |
| NM_001009944.3:c.3622G>A MANE Select | NP_001009944.3:p.Val1208Ile |