Linked Data
ClinVar Variation Id:
259010
dbSNP Id:
rs764720370
ExAC:
3:30713689 G / A
gnomAD v2:
3-30713689-G-A
gnomAD v3:
3-30672197-G-A
gnomAD v4:
3-30672197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672197G>A , CM000665.2:g.30672197G>A | GRCh38 |
| NC_000003.11:g.30713689G>A , CM000665.1:g.30713689G>A | GRCh37 |
| NC_000003.10:g.30688693G>A | NCBI36 |
| NG_007490.1:g.70696G>A , LRG_779:g.70696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1014G>A MANE Select | ENSP00000295754.5:p.Thr338= | |
| ENST00000672866.1:n.2610G>A | ||
| ENST00000295754.9:c.1014G>A | ENSP00000295754.5:p.Thr338= | |
| ENST00000359013.4:c.1089G>A | ENSP00000351905.4:p.Thr363= | |
| NM_001024847.2:c.1089G>A , LRG_779t1:c.1089G>A | NP_001020018.1:p.Thr363= | |
| NM_003242.5:c.1014G>A | NP_003233.4:p.Thr338= | |
| XM_011534043.1:c.1041G>A | XP_011532345.1:p.Thr347= | |
| XM_011534044.1:c.966G>A | XP_011532346.1:p.Thr322= | |
| XM_011534045.1:c.909G>A | XP_011532347.1:p.Thr303= | |
| XM_011534043.2:c.1041G>A | XP_011532345.1:p.Thr347= | |
| XM_011534045.3:c.909G>A | XP_011532347.1:p.Thr303= | |
| XM_017007106.1:c.909G>A | XP_016862595.1:p.Thr303= | |
| NM_003242.6:c.1014G>A MANE Select | NP_003233.4:p.Thr338= |