Linked Data
ClinVar Variation Id:
318989
dbSNP Id:
rs771216742
ExAC:
16:31201000 G / A
gnomAD v2:
16-31201000-G-A
gnomAD v3:
16-31189679-G-A
gnomAD v4:
16-31189679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189679G>A , CM000678.2:g.31189679G>A | GRCh38 |
| NC_000016.9:g.31201000G>A , CM000678.1:g.31201000G>A | GRCh37 |
| NC_000016.8:g.31108501G>A | NCBI36 |
| NG_012889.2:g.14548G>A , LRG_655:g.14548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.951G>A MANE Select | ENSP00000254108.8:p.Thr317= | |
| ENST00000254108.11:c.951G>A | ENSP00000254108.7:p.Thr317= | |
| ENST00000380244.7:c.948G>A | ENSP00000369594.3:p.Thr316= | |
| ENST00000474990.5:n.245G>A | ||
| ENST00000487509.6:n.4126G>A | ||
| ENST00000564766.1:n.775G>A | ||
| ENST00000566605.5:c.*124G>A | ENSP00000455073.1:n.*124G>A | |
| ENST00000568685.1:c.954G>A | ENSP00000455282.1:p.Thr318= | |
| ENST00000568901.2:n.325G>A | ||
| NM_001170634.1:c.948G>A | NP_001164105.1:p.Thr316= | |
| NM_001170937.1:c.939G>A | NP_001164408.1:p.Thr313= | |
| NM_004960.3:c.951G>A , LRG_655t1:c.951G>A | NP_004951.1:p.Thr317= | |
| NR_028388.2:n.1021G>A | ||
| XM_005255233.3:c.336G>A | XP_005255290.1:p.Thr112= | |
| XM_011545781.1:c.945G>A | XP_011544083.1:p.Thr315= | |
| XM_011545782.1:c.336G>A | XP_011544084.1:p.Thr112= | |
| XM_005255233.5:c.336G>A | XP_005255290.1:p.Thr112= | |
| XM_011545782.2:c.336G>A | XP_011544084.1:p.Thr112= | |
| XM_024450221.1:c.942G>A | XP_024305989.1:p.Thr314= | |
| NM_004960.4:c.951G>A MANE Select | NP_004951.1:p.Thr317= |