Linked Data
ClinVar Variation Id:
297148
ClinVar RCV Id:
RCV000354265
dbSNP Id:
rs778099655
ExAC:
1:33241662 C / T
gnomAD v2:
1-33241662-C-T
gnomAD v3:
1-32776061-C-T
gnomAD v4:
1-32776061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32776061C>T , CM000663.2:g.32776061C>T | GRCh38 |
| NC_000001.10:g.33241662C>T , CM000663.1:g.33241662C>T | GRCh37 |
| NC_000001.9:g.33014249C>T | NCBI36 |
| NG_008408.1:g.46972G>A , LRG_273:g.46972G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675785.2:c.1360G>A | ENSP00000502019.1:p.Ala454Thr | |
| ENST00000373477.9:c.1507G>A MANE Select | ENSP00000362576.4:p.Ala503Thr | |
| ENST00000674629.1:c.*1055G>A | ENSP00000502470.1:n.*1055G>A | |
| ENST00000674654.1:c.*1467G>A | ENSP00000501729.1:n.*1467G>A | |
| ENST00000675785.1:c.1360G>A | ENSP00000502019.1:p.Ala454Thr | |
| ENST00000676297.1:c.*1681G>A | ENSP00000501596.1:n.*1681G>A | |
| ENST00000373477.8:c.1507G>A | ENSP00000362576.4:p.Ala503Thr | |
| ENST00000469100.5:n.1423G>A | ||
| ENST00000478828.1:n.974G>A | ||
| ENST00000487404.5:n.1817G>A | ||
| ENST00000490826.1:n.1361G>A | ||
| NM_003680.3:c.1507G>A , LRG_273t1:c.1507G>A | NP_003671.1:p.Ala503Thr | |
| XM_011542347.1:c.877G>A | XP_011540649.1:p.Ala293Thr | |
| XM_011542348.1:c.877G>A | XP_011540650.1:p.Ala293Thr | |
| XM_011542347.2:c.877G>A | XP_011540649.1:p.Ala293Thr | |
| XM_017002651.2:c.877G>A | XP_016858140.1:p.Ala293Thr | |
| NM_003680.4:c.1507G>A MANE Select | NP_003671.1:p.Ala503Thr |