Linked Data
ClinVar Variation Id:
256954
dbSNP Id:
rs143784787
ExAC:
16:2161655 G / C
gnomAD v2:
16-2161655-G-C
gnomAD v3:
16-2111654-G-C
gnomAD v4:
16-2111654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111654G>C , CM000678.2:g.2111654G>C | GRCh38 |
| NC_000016.9:g.2161655G>C , CM000678.1:g.2161655G>C | GRCh37 |
| NC_000016.8:g.2101656G>C | NCBI36 |
| NG_008617.1:g.29245C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3513C>G MANE Select | ENSP00000262304.4:p.Thr1171= | |
| ENST00000262304.8:c.3513C>G | ENSP00000262304.4:p.Thr1171= | |
| ENST00000415938.7:n.310+686C>G | ||
| ENST00000423118.5:c.3513C>G | ENSP00000399501.1:p.Thr1171= | |
| ENST00000468674.5:n.430+686C>G | ||
| ENST00000469241.2:n.463C>G | ||
| ENST00000483024.1:c.233+162C>G | ||
| ENST00000483731.5:n.790+686C>G | ||
| ENST00000488185.2:c.473-3296C>G | ||
| ENST00000565639.6:n.773+686C>G | ||
| ENST00000568591.5:c.2226+686C>G | ENSP00000457162.1:n.2226+686C>G | |
| ENST00000569983.5:n.421+686C>G | ||
| NM_000296.3:c.3513C>G | NP_000287.3:p.Thr1171= | |
| NM_001009944.2:c.3513C>G | NP_001009944.2:p.Thr1171= | |
| XM_005255370.2:c.468C>G | XP_005255427.1:p.Thr156= | |
| XM_011522525.1:c.3591C>G | XP_011520827.1:p.Thr1197= | |
| XM_011522526.1:c.3591C>G | XP_011520828.1:p.Thr1197= | |
| XM_011522527.1:c.3591C>G | XP_011520829.1:p.Thr1197= | |
| XM_011522528.1:c.3567C>G | XP_011520830.1:p.Thr1189= | |
| XM_011522529.1:c.3567C>G | XP_011520831.1:p.Thr1189= | |
| XM_011522530.1:c.3537C>G | XP_011520832.1:p.Thr1179= | |
| XM_011522531.1:c.3519C>G | XP_011520833.1:p.Thr1173= | |
| XM_011522532.1:c.3465C>G | XP_011520834.1:p.Thr1155= | |
| XM_011522533.1:c.3384C>G | XP_011520835.1:p.Thr1128= | |
| XM_011522534.1:c.3327C>G | XP_011520836.1:p.Thr1109= | |
| XM_011522535.1:c.1413C>G | XP_011520837.1:p.Thr471= | |
| XM_011522536.1:c.3591C>G | XP_011520838.1:p.Thr1197= | |
| XM_011522537.1:c.591C>G | XP_011520839.1:p.Thr197= | |
| XR_932867.1:n.3606C>G | ||
| XR_932868.1:n.3606C>G | ||
| XR_932869.1:n.3606C>G | ||
| XR_932870.1:n.3606C>G | ||
| XM_005255370.3:c.468C>G | XP_005255427.1:p.Thr156= | |
| XM_011522528.3:c.3567C>G | XP_011520830.1:p.Thr1189= | |
| XM_011522529.2:c.3567C>G | XP_011520831.1:p.Thr1189= | |
| XM_011522537.2:c.591C>G | XP_011520839.1:p.Thr197= | |
| XM_024450298.1:c.3633C>G | XP_024306066.1:p.Thr1211= | |
| XM_024450299.1:c.3561C>G | XP_024306067.1:p.Thr1187= | |
| XM_024450300.1:c.3423C>G | XP_024306068.1:p.Thr1141= | |
| XM_024450301.1:c.1509C>G | XP_024306069.1:p.Thr503= | |
| NM_000296.4:c.3513C>G | NP_000287.4:p.Thr1171= | |
| NM_001009944.3:c.3513C>G MANE Select | NP_001009944.3:p.Thr1171= |