Linked Data
ClinVar Variation Id:
297150
dbSNP Id:
rs778718842
ExAC:
1:33245745 G / A
gnomAD v2:
1-33245745-G-A
gnomAD v3:
1-32780144-G-A
gnomAD v4:
1-32780144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780144G>A , CM000663.2:g.32780144G>A | GRCh38 |
| NC_000001.10:g.33245745G>A , CM000663.1:g.33245745G>A | GRCh37 |
| NC_000001.9:g.33018332G>A | NCBI36 |
| NG_008408.1:g.42889C>T , LRG_273:g.42889C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675785.2:c.1128C>T | ENSP00000502019.1:p.Asn376= | |
| ENST00000373477.9:c.1275C>T MANE Select | ENSP00000362576.4:p.Asn425= | |
| ENST00000674629.1:c.*823C>T | ENSP00000502470.1:n.*823C>T | |
| ENST00000674654.1:c.*1235C>T | ENSP00000501729.1:n.*1235C>T | |
| ENST00000675785.1:c.1128C>T | ENSP00000502019.1:p.Asn376= | |
| ENST00000676297.1:c.*1449C>T | ENSP00000501596.1:n.*1449C>T | |
| ENST00000373477.8:c.1275C>T | ENSP00000362576.4:p.Asn425= | |
| ENST00000469100.5:n.1191C>T | ||
| ENST00000478828.1:n.742C>T | ||
| ENST00000487404.5:n.1585C>T | ||
| ENST00000490826.1:n.568C>T | ||
| NM_003680.3:c.1275C>T , LRG_273t1:c.1275C>T | NP_003671.1:p.Asn425= | |
| XM_011542347.1:c.645C>T | XP_011540649.1:p.Asn215= | |
| XM_011542348.1:c.645C>T | XP_011540650.1:p.Asn215= | |
| XM_011542347.2:c.645C>T | XP_011540649.1:p.Asn215= | |
| XM_017002651.2:c.645C>T | XP_016858140.1:p.Asn215= | |
| NM_003680.4:c.1275C>T MANE Select | NP_003671.1:p.Asn425= |