Linked Data
ClinVar Variation Id:
2504735
ClinVar RCV Id:
RCV003234326
gnomAD v4:
21-44290027-C-T
COSMIC:
COSM3912236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290027C>T , CM000683.2:g.44290027C>T | GRCh38 |
| NC_000021.8:g.45709910C>T , CM000683.1:g.45709910C>T | GRCh37 |
| NC_000021.7:g.44534338C>T | NCBI36 |
| NG_009556.1:g.9148C>T , LRG_18:g.9148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.838C>T MANE Select | ENSP00000291582.5:p.Pro280Ser | |
| ENST00000291582.5:c.838C>T | ENSP00000291582.5:p.Pro280Ser | |
| ENST00000527919.5:n.1571C>T | ||
| ENST00000530812.5:n.2588C>T | ||
| NM_000383.3:c.838C>T | NP_000374.1:p.Pro280Ser | |
| XM_011529551.1:c.838C>T | XP_011527853.1:p.Pro280Ser | |
| NM_000383.4:c.838C>T MANE Select | NP_000374.1:p.Pro280Ser |