Linked Data
dbSNP Id:
rs751648764
ExAC:
16:31195284 G / A
gnomAD v2:
16-31195284-G-A
gnomAD v4:
16-31183963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31183963G>A , CM000678.2:g.31183963G>A | GRCh38 |
| NC_000016.9:g.31195284G>A , CM000678.1:g.31195284G>A | GRCh37 |
| NC_000016.8:g.31102785G>A | NCBI36 |
| NG_012889.2:g.8832G>A , LRG_655:g.8832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.296G>A MANE Select | ENSP00000254108.8:p.Gly99Asp | |
| ENST00000254108.11:c.296G>A | ENSP00000254108.7:p.Gly99Asp | |
| ENST00000380244.7:c.293G>A | ENSP00000369594.3:p.Gly98Asp | |
| ENST00000487509.6:n.361G>A | ||
| ENST00000487974.1:n.414G>A | ||
| ENST00000566605.5:c.296G>A | ENSP00000455073.1:p.Gly99Asp | |
| ENST00000568685.1:c.296G>A | ENSP00000455282.1:p.Gly99Asp | |
| NM_001170634.1:c.293G>A | NP_001164105.1:p.Gly98Asp | |
| NM_001170937.1:c.296G>A | NP_001164408.1:p.Gly99Asp | |
| NM_004960.3:c.296G>A , LRG_655t1:c.296G>A | NP_004951.1:p.Gly99Asp | |
| NR_028388.2:n.401G>A | ||
| XM_005255233.3:c.-285G>A | XP_005255290.1:n.-285G>A | |
| XM_011545781.1:c.296G>A | XP_011544083.1:p.Gly99Asp | |
| XM_005255233.5:c.-285G>A | XP_005255290.1:n.-285G>A | |
| XM_024450221.1:c.293G>A | XP_024305989.1:p.Gly98Asp | |
| NM_004960.4:c.296G>A MANE Select | NP_004951.1:p.Gly99Asp |