Linked Data
ClinVar Variation Id:
1304831
ClinVar RCV Id:
RCV001765067
dbSNP Id:
rs2123423461
gnomAD v4:
21-34370492-C-T
COSMIC:
COSM4467638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370492C>T , CM000683.2:g.34370492C>T | GRCh38 |
| NC_000021.8:g.35742791C>T , CM000683.1:g.35742791C>T | GRCh37 |
| NC_000021.7:g.34664661C>T | NCBI36 |
| NG_008804.1:g.11469C>T , LRG_291:g.11469C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.14C>T MANE Select | ENSP00000290310.2:p.Ser5Phe | |
| ENST00000290310.3:c.14C>T | ENSP00000290310.2:p.Ser5Phe | |
| NM_172201.1:c.14C>T , LRG_291t1:c.14C>T | NP_751951.1:p.Ser5Phe | |
| XR_937683.1:n.829G>A | ||
| XR_937684.1:n.829G>A | ||
| XR_001755012.2:n.950G>A | ||
| XR_001755013.2:n.829G>A | ||
| XR_937683.2:n.829G>A | ||
| NM_172201.2:c.14C>T MANE Select | NP_751951.1:p.Ser5Phe |