Linked Data
ClinVar Variation Id:
1218761
dbSNP Id:
rs751293870
ExAC:
16:2161674 T / C
gnomAD v2:
16-2161674-T-C
gnomAD v3:
16-2111673-T-C
gnomAD v4:
16-2111673-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111673T>C , CM000678.2:g.2111673T>C | GRCh38 |
| NC_000016.9:g.2161674T>C , CM000678.1:g.2161674T>C | GRCh37 |
| NC_000016.8:g.2101675T>C | NCBI36 |
| NG_008617.1:g.29226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3494A>G MANE Select | ENSP00000262304.4:p.Asp1165Gly | |
| ENST00000262304.8:c.3494A>G | ENSP00000262304.4:p.Asp1165Gly | |
| ENST00000415938.7:n.310+667A>G | ||
| ENST00000423118.5:c.3494A>G | ENSP00000399501.1:p.Asp1165Gly | |
| ENST00000468674.5:n.430+667A>G | ||
| ENST00000469241.2:n.444A>G | ||
| ENST00000483024.1:c.233+143A>G | ||
| ENST00000483731.5:n.790+667A>G | ||
| ENST00000488185.2:c.473-3315A>G | ||
| ENST00000565639.6:n.773+667A>G | ||
| ENST00000568591.5:c.2226+667A>G | ENSP00000457162.1:n.2226+667A>G | |
| ENST00000569983.5:n.421+667A>G | ||
| NM_000296.3:c.3494A>G | NP_000287.3:p.Asp1165Gly | |
| NM_001009944.2:c.3494A>G | NP_001009944.2:p.Asp1165Gly | |
| XM_005255370.2:c.449A>G | XP_005255427.1:p.Asp150Gly | |
| XM_011522525.1:c.3572A>G | XP_011520827.1:p.Asp1191Gly | |
| XM_011522526.1:c.3572A>G | XP_011520828.1:p.Asp1191Gly | |
| XM_011522527.1:c.3572A>G | XP_011520829.1:p.Asp1191Gly | |
| XM_011522528.1:c.3548A>G | XP_011520830.1:p.Asp1183Gly | |
| XM_011522529.1:c.3548A>G | XP_011520831.1:p.Asp1183Gly | |
| XM_011522530.1:c.3518A>G | XP_011520832.1:p.Asp1173Gly | |
| XM_011522531.1:c.3500A>G | XP_011520833.1:p.Asp1167Gly | |
| XM_011522532.1:c.3446A>G | XP_011520834.1:p.Asp1149Gly | |
| XM_011522533.1:c.3365A>G | XP_011520835.1:p.Asp1122Gly | |
| XM_011522534.1:c.3308A>G | XP_011520836.1:p.Asp1103Gly | |
| XM_011522535.1:c.1394A>G | XP_011520837.1:p.Asp465Gly | |
| XM_011522536.1:c.3572A>G | XP_011520838.1:p.Asp1191Gly | |
| XM_011522537.1:c.572A>G | XP_011520839.1:p.Asp191Gly | |
| XR_932867.1:n.3587A>G | ||
| XR_932868.1:n.3587A>G | ||
| XR_932869.1:n.3587A>G | ||
| XR_932870.1:n.3587A>G | ||
| XM_005255370.3:c.449A>G | XP_005255427.1:p.Asp150Gly | |
| XM_011522528.3:c.3548A>G | XP_011520830.1:p.Asp1183Gly | |
| XM_011522529.2:c.3548A>G | XP_011520831.1:p.Asp1183Gly | |
| XM_011522537.2:c.572A>G | XP_011520839.1:p.Asp191Gly | |
| XM_024450298.1:c.3614A>G | XP_024306066.1:p.Asp1205Gly | |
| XM_024450299.1:c.3542A>G | XP_024306067.1:p.Asp1181Gly | |
| XM_024450300.1:c.3404A>G | XP_024306068.1:p.Asp1135Gly | |
| XM_024450301.1:c.1490A>G | XP_024306069.1:p.Asp497Gly | |
| NM_000296.4:c.3494A>G | NP_000287.4:p.Asp1165Gly | |
| NM_001009944.3:c.3494A>G MANE Select | NP_001009944.3:p.Asp1165Gly |