Linked Data
ClinVar Variation Id:
16248
ClinVar RCV Id:
RCV000017636
dbSNP Id:
rs121909661
ExAC:
2:49190705 C / T
gnomAD v2:
2-49190705-C-T
gnomAD v4:
2-48963566-C-T
PubMed:
PMID:11889179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963566C>T , CM000664.2:g.48963566C>T | GRCh38 |
| NC_000002.11:g.49190705C>T , CM000664.1:g.49190705C>T | GRCh37 |
| NC_000002.10:g.49044209C>T | NCBI36 |
| NG_008146.1:g.195926G>A , LRG_536:g.195926G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406846.7:c.1255G>A MANE Select | ENSP00000384708.2:p.Ala419Thr | |
| ENST00000304421.8:c.1177G>A | ENSP00000306780.4:p.Ala393Thr | |
| ENST00000406846.6:c.1255G>A | ENSP00000384708.2:p.Ala419Thr | |
| NM_000145.3:c.1255G>A , LRG_536t1:c.1255G>A | NP_000136.2:p.Ala419Thr | |
| NM_181446.2:c.1177G>A | NP_852111.2:p.Ala393Thr | |
| XM_011532733.1:c.1357G>A | XP_011531035.1:p.Ala453Thr | |
| XM_011532734.1:c.1024G>A | XP_011531036.1:p.Ala342Thr | |
| XM_011532735.1:c.463G>A | XP_011531037.1:p.Ala155Thr | |
| XM_011532736.1:c.463G>A | XP_011531038.1:p.Ala155Thr | |
| XM_011532737.1:c.956+5132G>A | XP_011531039.1:n.956+5132G>A | |
| XM_011532738.1:c.956+5132G>A | XP_011531040.1:n.956+5132G>A | |
| XM_011532739.1:c.956+5132G>A | XP_011531041.1:n.956+5132G>A | |
| XM_011532733.2:c.1357G>A | XP_011531035.1:p.Ala453Thr | |
| XM_011532734.2:c.1024G>A | XP_011531036.1:p.Ala342Thr | |
| XM_011532735.2:c.463G>A | XP_011531037.1:p.Ala155Thr | |
| XM_011532736.2:c.463G>A | XP_011531038.1:p.Ala155Thr | |
| NM_000145.4:c.1255G>A MANE Select | NP_000136.2:p.Ala419Thr | |
| NM_181446.3:c.1177G>A | NP_852111.2:p.Ala393Thr |