Linked Data
dbSNP Id:
rs774525611
ExAC:
16:2161559 C / T
gnomAD v2:
16-2161559-C-T
gnomAD v3:
16-2111558-C-T
gnomAD v4:
16-2111558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111558C>T , CM000678.2:g.2111558C>T | GRCh38 |
| NC_000016.9:g.2161559C>T , CM000678.1:g.2161559C>T | GRCh37 |
| NC_000016.8:g.2101560C>T | NCBI36 |
| NG_008617.1:g.29341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3609G>A MANE Select | ENSP00000262304.4:p.Gln1203= | |
| ENST00000262304.8:c.3609G>A | ENSP00000262304.4:p.Gln1203= | |
| ENST00000415938.7:n.310+782G>A | ||
| ENST00000423118.5:c.3609G>A | ENSP00000399501.1:p.Gln1203= | |
| ENST00000468674.5:n.430+782G>A | ||
| ENST00000469241.2:n.559G>A | ||
| ENST00000483024.1:c.233+258G>A | ||
| ENST00000483731.5:n.790+782G>A | ||
| ENST00000488185.2:c.473-3200G>A | ||
| ENST00000565639.6:n.773+782G>A | ||
| ENST00000568591.5:c.2226+782G>A | ENSP00000457162.1:n.2226+782G>A | |
| ENST00000569983.5:n.421+782G>A | ||
| NM_000296.3:c.3609G>A | NP_000287.3:p.Gln1203= | |
| NM_001009944.2:c.3609G>A | NP_001009944.2:p.Gln1203= | |
| XM_005255370.2:c.564G>A | XP_005255427.1:p.Gln188= | |
| XM_011522525.1:c.3687G>A | XP_011520827.1:p.Gln1229= | |
| XM_011522526.1:c.3687G>A | XP_011520828.1:p.Gln1229= | |
| XM_011522527.1:c.3687G>A | XP_011520829.1:p.Gln1229= | |
| XM_011522528.1:c.3663G>A | XP_011520830.1:p.Gln1221= | |
| XM_011522529.1:c.3663G>A | XP_011520831.1:p.Gln1221= | |
| XM_011522530.1:c.3633G>A | XP_011520832.1:p.Gln1211= | |
| XM_011522531.1:c.3615G>A | XP_011520833.1:p.Gln1205= | |
| XM_011522532.1:c.3561G>A | XP_011520834.1:p.Gln1187= | |
| XM_011522533.1:c.3480G>A | XP_011520835.1:p.Gln1160= | |
| XM_011522534.1:c.3423G>A | XP_011520836.1:p.Gln1141= | |
| XM_011522535.1:c.1509G>A | XP_011520837.1:p.Gln503= | |
| XM_011522536.1:c.3687G>A | XP_011520838.1:p.Gln1229= | |
| XM_011522537.1:c.687G>A | XP_011520839.1:p.Gln229= | |
| XR_932867.1:n.3702G>A | ||
| XR_932868.1:n.3702G>A | ||
| XR_932869.1:n.3702G>A | ||
| XR_932870.1:n.3702G>A | ||
| XM_005255370.3:c.564G>A | XP_005255427.1:p.Gln188= | |
| XM_011522528.3:c.3663G>A | XP_011520830.1:p.Gln1221= | |
| XM_011522529.2:c.3663G>A | XP_011520831.1:p.Gln1221= | |
| XM_011522537.2:c.687G>A | XP_011520839.1:p.Gln229= | |
| XM_024450298.1:c.3729G>A | XP_024306066.1:p.Gln1243= | |
| XM_024450299.1:c.3657G>A | XP_024306067.1:p.Gln1219= | |
| XM_024450300.1:c.3519G>A | XP_024306068.1:p.Gln1173= | |
| XM_024450301.1:c.1605G>A | XP_024306069.1:p.Gln535= | |
| NM_000296.4:c.3609G>A | NP_000287.4:p.Gln1203= | |
| NM_001009944.3:c.3609G>A MANE Select | NP_001009944.3:p.Gln1203= |