Linked Data
ClinVar Variation Id:
447998
dbSNP Id:
rs564570407
ExAC:
16:2157984 G / A
gnomAD v2:
16-2157984-G-A
gnomAD v3:
16-2107983-G-A
gnomAD v4:
16-2107983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2107983G>A , CM000678.2:g.2107983G>A | GRCh38 |
| NC_000016.9:g.2157984G>A , CM000678.1:g.2157984G>A | GRCh37 |
| NC_000016.8:g.2097985G>A | NCBI36 |
| NG_008617.1:g.32916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.6965C>T MANE Select | ENSP00000262304.4:p.Thr2322Met | |
| ENST00000262304.8:c.6965C>T | ENSP00000262304.4:p.Thr2322Met | |
| ENST00000415938.7:n.311-1035C>T | ||
| ENST00000423118.5:c.6965C>T | ENSP00000399501.1:p.Thr2322Met | |
| ENST00000473780.2:n.347C>T | ||
| ENST00000483024.1:c.234-1035C>T | ||
| ENST00000483731.5:n.791-1035C>T | ||
| ENST00000487932.5:c.1652C>T | ENSP00000457132.1:p.Thr551Met | |
| ENST00000488185.2:c.629C>T | ||
| ENST00000496574.6:n.34C>T | ||
| ENST00000565639.6:n.774-1035C>T | ||
| ENST00000568591.5:c.2227-1035C>T | ENSP00000457162.1:n.2227-1035C>T | |
| ENST00000569983.5:n.422-1035C>T | ||
| NM_000296.3:c.6965C>T | NP_000287.3:p.Thr2322Met | |
| NM_001009944.2:c.6965C>T | NP_001009944.2:p.Thr2322Met | |
| XM_005255370.2:c.3920C>T | XP_005255427.1:p.Thr1307Met | |
| XM_011522525.1:c.7043C>T | XP_011520827.1:p.Thr2348Met | |
| XM_011522526.1:c.7043C>T | XP_011520828.1:p.Thr2348Met | |
| XM_011522527.1:c.7043C>T | XP_011520829.1:p.Thr2348Met | |
| XM_011522528.1:c.7019C>T | XP_011520830.1:p.Thr2340Met | |
| XM_011522529.1:c.7019C>T | XP_011520831.1:p.Thr2340Met | |
| XM_011522530.1:c.6989C>T | XP_011520832.1:p.Thr2330Met | |
| XM_011522531.1:c.6971C>T | XP_011520833.1:p.Thr2324Met | |
| XM_011522532.1:c.6917C>T | XP_011520834.1:p.Thr2306Met | |
| XM_011522533.1:c.6836C>T | XP_011520835.1:p.Thr2279Met | |
| XM_011522534.1:c.6779C>T | XP_011520836.1:p.Thr2260Met | |
| XM_011522535.1:c.4865C>T | XP_011520837.1:p.Thr1622Met | |
| XM_011522536.1:c.7043C>T | XP_011520838.1:p.Thr2348Met | |
| XM_011522537.1:c.4043C>T | XP_011520839.1:p.Thr1348Met | |
| XR_932867.1:n.7058C>T | ||
| XR_932868.1:n.7058C>T | ||
| XR_932869.1:n.7058C>T | ||
| XR_932870.1:n.7058C>T | ||
| XM_005255370.3:c.3920C>T | XP_005255427.1:p.Thr1307Met | |
| XM_011522528.3:c.7019C>T | XP_011520830.1:p.Thr2340Met | |
| XM_011522529.2:c.7019C>T | XP_011520831.1:p.Thr2340Met | |
| XM_011522537.2:c.4043C>T | XP_011520839.1:p.Thr1348Met | |
| XM_024450298.1:c.7085C>T | XP_024306066.1:p.Thr2362Met | |
| XM_024450299.1:c.7013C>T | XP_024306067.1:p.Thr2338Met | |
| XM_024450300.1:c.6875C>T | XP_024306068.1:p.Thr2292Met | |
| XM_024450301.1:c.4961C>T | XP_024306069.1:p.Thr1654Met | |
| NM_000296.4:c.6965C>T | NP_000287.4:p.Thr2322Met | |
| NM_001009944.3:c.6965C>T MANE Select | NP_001009944.3:p.Thr2322Met |