Linked Data
ClinVar Variation Id:
319688
dbSNP Id:
rs772642133
ExAC:
16:53922803 T / G
gnomAD v2:
16-53922803-T-G
gnomAD v3:
16-53888891-T-G
gnomAD v4:
16-53888891-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53888891T>G , CM000678.2:g.53888891T>G | GRCh38 |
| NC_000016.9:g.53922803T>G , CM000678.1:g.53922803T>G | GRCh37 |
| NC_000016.8:g.52480304T>G | NCBI36 |
| NG_012969.1:g.189929T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471389.6:c.1179T>G MANE Select | ENSP00000418823.1:p.Thr393= | |
| ENST00000563011.2:c.559T>G | ||
| ENST00000612285.2:c.204T>G | ENSP00000490300.1:p.Thr68= | |
| ENST00000636030.1:n.1206T>G | ||
| ENST00000636218.1:c.1179T>G | ENSP00000489641.1:p.Thr393= | |
| ENST00000636491.1:c.1161T>G | ENSP00000490047.1:p.Thr387= | |
| ENST00000636992.1:c.1179T>G | ENSP00000489886.1:p.Thr393= | |
| ENST00000637001.1:c.1179T>G | ENSP00000489936.1:p.Thr393= | |
| ENST00000637562.1:c.1179T>G | ENSP00000490426.1:p.Thr393= | |
| ENST00000637845.1:c.1179T>G | ENSP00000489638.1:p.Thr393= | |
| ENST00000637969.1:c.1179T>G | ENSP00000490516.1:p.Thr393= | |
| ENST00000431610.6:c.-19T>G | ENSP00000415636.2:n.-19T>G | |
| ENST00000460382.5:c.-19T>G | ENSP00000417422.1:n.-19T>G | |
| ENST00000464071.1:c.*338T>G | ENSP00000418424.1:n.*338T>G | |
| ENST00000471389.5:c.1179T>G | ENSP00000418823.1:p.Thr393= | |
| NM_001080432.2:c.1179T>G | NP_001073901.1:p.Thr393= | |
| XM_011523313.1:c.1209T>G | XP_011521615.1:p.Thr403= | |
| XM_011523314.1:c.1209T>G | XP_011521616.1:p.Thr403= | |
| XM_011523315.1:c.1209T>G | XP_011521617.1:p.Thr403= | |
| XM_011523316.1:c.1209T>G | XP_011521618.1:p.Thr403= | |
| NM_001363891.1:c.1209T>G | NP_001350820.1:p.Thr403= | |
| NM_001363894.1:c.1179T>G | NP_001350823.1:p.Thr393= | |
| NM_001363896.1:c.1179T>G | NP_001350825.1:p.Thr393= | |
| NM_001363897.1:c.1101T>G | NP_001350826.1:p.Thr367= | |
| NM_001363898.1:c.1065T>G | NP_001350827.1:p.Thr355= | |
| NM_001363899.1:c.1065T>G | NP_001350828.1:p.Thr355= | |
| NM_001363900.1:c.1035T>G | NP_001350829.1:p.Thr345= | |
| NM_001363901.1:c.1035T>G | NP_001350830.1:p.Thr345= | |
| NM_001363903.1:c.1179T>G | NP_001350832.1:p.Thr393= | |
| NM_001363905.1:c.666T>G | NP_001350834.1:p.Thr222= | |
| NM_001363988.1:c.1179T>G | NP_001350917.1:p.Thr393= | |
| NR_156761.1:n.489+44593T>G | ||
| XM_011523314.3:c.1209T>G | XP_011521616.1:p.Thr403= | |
| XM_011523315.3:c.1209T>G | XP_011521617.1:p.Thr403= | |
| XM_011523316.3:c.1209T>G | XP_011521618.1:p.Thr403= | |
| XM_017023654.2:c.1209T>G | XP_016879143.1:p.Thr403= | |
| XM_017023655.2:c.1179T>G | XP_016879144.1:p.Thr393= | |
| XM_017023656.2:c.1179T>G | XP_016879145.1:p.Thr393= | |
| XM_017023657.2:c.1179T>G | XP_016879146.1:p.Thr393= | |
| XM_024450437.1:c.1179T>G | XP_024306205.1:p.Thr393= | |
| NM_001080432.3:c.1179T>G MANE Select | NP_001073901.1:p.Thr393= |