Linked Data
ClinVar Variation Id:
2902
dbSNP Id:
rs80002943
gnomAD v4:
17-44374732-G-A
ERepo:
CA115850/MONDO:0010119/011
PubMed:
PMID:20020534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374732G>A , CM000679.2:g.44374732G>A | GRCh38 |
| NC_000017.10:g.42452100G>A , CM000679.1:g.42452100G>A | GRCh37 |
| NC_000017.9:g.39807626G>A | NCBI36 |
| NG_008331.1:g.19774C>T , LRG_479:g.19774C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2870C>T MANE Select | ENSP00000262407.5:p.Ser957Leu | |
| ENST00000648408.1:c.2301C>T | ||
| ENST00000262407.5:c.2870C>T | ENSP00000262407.5:p.Ser957Leu | |
| ENST00000587295.5:c.253+1101C>T | ||
| ENST00000592462.5:n.2381C>T | ||
| NM_000419.3:c.2870C>T , LRG_479t1:c.2870C>T | NP_000410.2:p.Ser957Leu | |
| XM_011524749.1:c.2842-262C>T | XP_011523051.1:n.2842-262C>T | |
| XM_011524750.1:c.2870C>T | XP_011523052.1:p.Ser957Leu | |
| NM_000419.4:c.2870C>T | NP_000410.2:p.Ser957Leu | |
| NM_000419.5:c.2870C>T MANE Select | NP_000410.2:p.Ser957Leu |