Linked Data
ClinVar Variation Id:
454953
ClinVar RCV Id:
RCV000524632
dbSNP Id:
rs141886699
ExAC:
21:43892939 G / A
gnomAD v2:
21-43892939-G-A
gnomAD v3:
21-42472829-G-A
gnomAD v4:
21-42472829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42472829G>A , CM000683.2:g.42472829G>A | GRCh38 |
| NC_000021.8:g.43892939G>A , CM000683.1:g.43892939G>A | GRCh37 |
| NC_000021.7:g.42766008G>A | NCBI36 |
| NG_034257.1:g.28526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.919C>T MANE Select | ENSP00000291536.3:p.Leu307Phe | |
| ENST00000291536.7:c.919C>T | ENSP00000291536.3:p.Leu307Phe | |
| ENST00000398352.3:c.805C>T | ENSP00000381395.3:p.Leu269Phe | |
| ENST00000493019.1:n.2537C>T | ||
| NM_001286506.1:c.805C>T | NP_001273435.1:p.Leu269Phe | |
| NM_080860.3:c.919C>T | NP_543136.1:p.Leu307Phe | |
| XM_005261208.1:c.712C>T | XP_005261265.1:p.Leu238Phe | |
| XM_011529786.1:c.847C>T | XP_011528088.1:p.Leu283Phe | |
| XM_005261208.2:c.712C>T | XP_005261265.1:p.Leu238Phe | |
| NM_080860.4:c.919C>T MANE Select | NP_543136.1:p.Leu307Phe | |
| NM_001286506.2:c.805C>T | NP_001273435.1:p.Leu269Phe |