Linked Data
ClinVar Variation Id:
397605
dbSNP Id:
rs766302578
ExAC:
16:2164524 C / T
gnomAD v2:
16-2164524-C-T
gnomAD v3:
16-2114523-C-T
gnomAD v4:
16-2114523-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2114523C>T , CM000678.2:g.2114523C>T | GRCh38 |
| NC_000016.9:g.2164524C>T , CM000678.1:g.2164524C>T | GRCh37 |
| NC_000016.8:g.2104525C>T | NCBI36 |
| NG_008617.1:g.26376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2500G>A MANE Select | ENSP00000262304.4:p.Gly834Ser | |
| ENST00000262304.8:c.2500G>A | ENSP00000262304.4:p.Gly834Ser | |
| ENST00000423118.5:c.2500G>A | ENSP00000399501.1:p.Gly834Ser | |
| ENST00000488185.2:c.472+2966G>A | ||
| ENST00000568591.5:c.1431G>A | ENSP00000457162.1:n.1431G>A | |
| NM_000296.3:c.2500G>A | NP_000287.3:p.Gly834Ser | |
| NM_001009944.2:c.2500G>A | NP_001009944.2:p.Gly834Ser | |
| XM_011522525.1:c.2554G>A | XP_011520827.1:p.Gly852Ser | |
| XM_011522526.1:c.2554G>A | XP_011520828.1:p.Gly852Ser | |
| XM_011522527.1:c.2554G>A | XP_011520829.1:p.Gly852Ser | |
| XM_011522528.1:c.2554G>A | XP_011520830.1:p.Gly852Ser | |
| XM_011522529.1:c.2554G>A | XP_011520831.1:p.Gly852Ser | |
| XM_011522530.1:c.2500G>A | XP_011520832.1:p.Gly834Ser | |
| XM_011522531.1:c.2482G>A | XP_011520833.1:p.Gly828Ser | |
| XM_011522532.1:c.2428G>A | XP_011520834.1:p.Gly810Ser | |
| XM_011522533.1:c.2347G>A | XP_011520835.1:p.Gly783Ser | |
| XM_011522534.1:c.2290G>A | XP_011520836.1:p.Gly764Ser | |
| XM_011522535.1:c.376G>A | XP_011520837.1:p.Gly126Ser | |
| XM_011522536.1:c.2554G>A | XP_011520838.1:p.Gly852Ser | |
| XR_932867.1:n.2569G>A | ||
| XR_932868.1:n.2569G>A | ||
| XR_932869.1:n.2569G>A | ||
| XR_932870.1:n.2569G>A | ||
| XM_005255370.3:c.-550G>A | XP_005255427.1:n.-550G>A | |
| XM_011522528.3:c.2554G>A | XP_011520830.1:p.Gly852Ser | |
| XM_011522529.2:c.2554G>A | XP_011520831.1:p.Gly852Ser | |
| XM_024450298.1:c.2500G>A | XP_024306066.1:p.Gly834Ser | |
| XM_024450299.1:c.2428G>A | XP_024306067.1:p.Gly810Ser | |
| XM_024450300.1:c.2290G>A | XP_024306068.1:p.Gly764Ser | |
| XM_024450301.1:c.376G>A | XP_024306069.1:p.Gly126Ser | |
| NM_000296.4:c.2500G>A | NP_000287.4:p.Gly834Ser | |
| NM_001009944.3:c.2500G>A MANE Select | NP_001009944.3:p.Gly834Ser |