Linked Data
ClinVar Variation Id:
997187
dbSNP Id:
rs573611925
ExAC:
16:2156547 C / A
gnomAD v2:
16-2156547-C-A
gnomAD v3:
16-2106546-C-A
gnomAD v4:
16-2106546-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106546C>A , CM000678.2:g.2106546C>A | GRCh38 |
| NC_000016.9:g.2156547C>A , CM000678.1:g.2156547C>A | GRCh37 |
| NC_000016.8:g.2096548C>A | NCBI36 |
| NG_008617.1:g.34353G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7341G>T MANE Select | ENSP00000262304.4:p.Thr2447= | |
| ENST00000262304.8:c.7341G>T | ENSP00000262304.4:p.Thr2447= | |
| ENST00000415938.7:n.586G>T | ||
| ENST00000423118.5:c.7341G>T | ENSP00000399501.1:p.Thr2447= | |
| ENST00000483558.5:n.400G>T | ||
| ENST00000483731.5:n.1066G>T | ||
| ENST00000486339.6:n.1087G>T | ||
| ENST00000487932.5:c.2028G>T | ENSP00000457132.1:p.Thr676= | |
| ENST00000496574.6:n.1344G>T | ||
| ENST00000565639.6:n.1049G>T | ||
| ENST00000568591.5:c.2502G>T | ENSP00000457162.1:n.2502G>T | |
| ENST00000569983.5:n.697G>T | ||
| NM_000296.3:c.7341G>T | NP_000287.3:p.Thr2447= | |
| NM_001009944.2:c.7341G>T | NP_001009944.2:p.Thr2447= | |
| XM_005255370.2:c.4296G>T | XP_005255427.1:p.Thr1432= | |
| XM_011522525.1:c.7419G>T | XP_011520827.1:p.Thr2473= | |
| XM_011522526.1:c.7419G>T | XP_011520828.1:p.Thr2473= | |
| XM_011522527.1:c.7419G>T | XP_011520829.1:p.Thr2473= | |
| XM_011522528.1:c.7395G>T | XP_011520830.1:p.Thr2465= | |
| XM_011522529.1:c.7395G>T | XP_011520831.1:p.Thr2465= | |
| XM_011522530.1:c.7365G>T | XP_011520832.1:p.Thr2455= | |
| XM_011522531.1:c.7347G>T | XP_011520833.1:p.Thr2449= | |
| XM_011522532.1:c.7293G>T | XP_011520834.1:p.Thr2431= | |
| XM_011522533.1:c.7212G>T | XP_011520835.1:p.Thr2404= | |
| XM_011522534.1:c.7155G>T | XP_011520836.1:p.Thr2385= | |
| XM_011522535.1:c.5241G>T | XP_011520837.1:p.Thr1747= | |
| XM_011522536.1:c.7419G>T | XP_011520838.1:p.Thr2473= | |
| XM_011522537.1:c.4419G>T | XP_011520839.1:p.Thr1473= | |
| XR_932867.1:n.7434G>T | ||
| XR_932868.1:n.7434G>T | ||
| XR_932869.1:n.7434G>T | ||
| XR_932870.1:n.7434G>T | ||
| XM_005255370.3:c.4296G>T | XP_005255427.1:p.Thr1432= | |
| XM_011522528.3:c.7395G>T | XP_011520830.1:p.Thr2465= | |
| XM_011522529.2:c.7395G>T | XP_011520831.1:p.Thr2465= | |
| XM_011522537.2:c.4419G>T | XP_011520839.1:p.Thr1473= | |
| XM_024450298.1:c.7461G>T | XP_024306066.1:p.Thr2487= | |
| XM_024450299.1:c.7389G>T | XP_024306067.1:p.Thr2463= | |
| XM_024450300.1:c.7251G>T | XP_024306068.1:p.Thr2417= | |
| XM_024450301.1:c.5337G>T | XP_024306069.1:p.Thr1779= | |
| NM_000296.4:c.7341G>T | NP_000287.4:p.Thr2447= | |
| NM_001009944.3:c.7341G>T MANE Select | NP_001009944.3:p.Thr2447= |