Linked Data
ClinVar Variation Id:
297160
dbSNP Id:
rs762551221
ExAC:
1:33272179 G / A
gnomAD v2:
1-33272179-G-A
gnomAD v4:
1-32806578-G-A
COSMIC:
COSM3488212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32806578G>A , CM000663.2:g.32806578G>A | GRCh38 |
| NC_000001.10:g.33272179G>A , CM000663.1:g.33272179G>A | GRCh37 |
| NC_000001.9:g.33044766G>A | NCBI36 |
| NG_008408.1:g.16455C>T , LRG_273:g.16455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.267C>T | ENSP00000502019.1:p.Ser89= | |
| ENST00000373477.9:c.414C>T MANE Select | ENSP00000362576.4:p.Ser138= | |
| ENST00000481895.6:c.414C>T | ENSP00000502016.1:p.Ser138= | |
| ENST00000616261.2:c.414C>T | ENSP00000484192.2:p.Ser138= | |
| ENST00000674629.1:c.91C>T | ENSP00000502470.1:p.Arg31Cys | |
| ENST00000674654.1:c.380+4013C>T | ENSP00000501729.1:n.380+4013C>T | |
| ENST00000675785.1:c.267C>T | ENSP00000502019.1:p.Ser89= | |
| ENST00000676297.1:c.414C>T | ENSP00000501596.1:p.Ser138= | |
| ENST00000373477.8:c.414C>T | ENSP00000362576.4:p.Ser138= | |
| ENST00000470377.1:n.3C>T | ||
| ENST00000481895.5:n.487C>T | ||
| ENST00000616261.1:c.414C>T | ENSP00000484192.1:p.Ser138= | |
| NM_003680.3:c.414C>T , LRG_273t1:c.414C>T | NP_003671.1:p.Ser138= | |
| XM_011542347.1:c.-217C>T | XP_011540649.1:n.-217C>T | |
| XM_011542348.1:c.-264C>T | XP_011540650.1:n.-264C>T | |
| XM_011542347.2:c.-217C>T | XP_011540649.1:n.-217C>T | |
| XM_017002651.2:c.-264C>T | XP_016858140.1:n.-264C>T | |
| NM_003680.4:c.414C>T MANE Select | NP_003671.1:p.Ser138= |