Linked Data
dbSNP Id:
rs754209314
ExAC:
3:93598097 C / T
gnomAD v2:
3-93598097-C-T
gnomAD v3:
3-93879253-C-T
gnomAD v4:
3-93879253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879253C>T , CM000665.2:g.93879253C>T | GRCh38 |
| NC_000003.11:g.93598097C>T , CM000665.1:g.93598097C>T | GRCh37 |
| NC_000003.10:g.95080787C>T | NCBI36 |
| NG_009813.1:g.99838G>A , LRG_572:g.99838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1554G>A | ENSP00000330021.7:p.Thr518= | |
| ENST00000394236.9:c.1554G>A MANE Select | ENSP00000377783.3:p.Thr518= | |
| ENST00000407433.6:c.1509G>A | ENSP00000385794.2:p.Thr503= | |
| ENST00000647936.1:c.1554G>A | ENSP00000496822.1:p.Thr518= | |
| ENST00000648381.1:n.1722G>A | ||
| ENST00000648853.1:c.1512G>A | ENSP00000497262.1:p.Thr504= | |
| ENST00000649103.1:c.1653G>A | ENSP00000497962.1:n.1653G>A | |
| ENST00000649585.1:c.497G>A | ENSP00000498163.1:n.497G>A | |
| ENST00000650591.1:c.1650G>A | ENSP00000497376.1:p.Thr550= | |
| ENST00000394236.7:c.1554G>A | ENSP00000377783.3:p.Thr518= | |
| ENST00000407433.5:c.1161G>A | ENSP00000385794.1:p.Thr387= | |
| NM_000313.3:c.1554G>A , LRG_572t1:c.1554G>A | NP_000304.2:p.Thr518= | |
| NM_001314077.1:c.1650G>A , LRG_572t2:c.1650G>A | NP_001301006.1:p.Thr550= | |
| NM_000313.4:c.1554G>A MANE Select | NP_000304.2:p.Thr518= | |
| NM_001314077.2:c.1650G>A | NP_001301006.1:p.Thr550= |