Linked Data
ClinVar Variation Id:
340045
ClinVar RCV Id:
RCV000300009
dbSNP Id:
rs540533831
ExAC:
21:43792332 G / A
gnomAD v2:
21-43792332-G-A
gnomAD v3:
21-42372223-G-A
gnomAD v4:
21-42372223-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42372223G>A , CM000683.2:g.42372223G>A | GRCh38 |
| NC_000021.8:g.43792332G>A , CM000683.1:g.43792332G>A | GRCh37 |
| NC_000021.7:g.42665401G>A | NCBI36 |
| NG_011629.1:g.28869C>T | |
| NG_011629.2:g.28869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.*539C>T | ENSP00000411013.3:n.*539C>T | |
| ENST00000644384.2:c.*539C>T MANE Select | ENSP00000494414.1:n.*539C>T | |
| ENST00000652415.1:c.*539C>T | ENSP00000498756.1:n.*539C>T | |
| ENST00000291532.7:c.*539C>T | ENSP00000291532.3:n.*539C>T | |
| ENST00000398405.5:c.*539C>T | ENSP00000381442.1:n.*539C>T | |
| ENST00000433957.6:c.*539C>T | ENSP00000411013.2:n.*539C>T | |
| ENST00000474596.5:n.1772C>T | ||
| ENST00000476848.5:n.2636C>T | ||
| ENST00000482761.1:n.2191C>T | ||
| NM_001256317.1:c.*539C>T | NP_001243246.1:n.*539C>T | |
| NM_024022.2:c.*539C>T | NP_076927.1:n.*539C>T | |
| NM_032404.2:c.*539C>T | NP_115780.1:n.*539C>T | |
| NR_046020.1:n.2860C>T | ||
| NM_001256317.2:c.*539C>T | NP_001243246.1:n.*539C>T | |
| NM_024022.3:c.*539C>T | NP_076927.1:n.*539C>T | |
| NM_001256317.3:c.*539C>T MANE Select | NP_001243246.1:n.*539C>T | |
| NM_024022.4:c.*539C>T | NP_076927.1:n.*539C>T | |
| NM_032404.3:c.*539C>T | NP_115780.1:n.*539C>T |