Linked Data
ClinVar Variation Id:
340051
ClinVar RCV Id:
RCV000330240
dbSNP Id:
rs757369320
ExAC:
21:43792584 G / A
gnomAD v2:
21-43792584-G-A
gnomAD v3:
21-42372475-G-A
gnomAD v4:
21-42372475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42372475G>A , CM000683.2:g.42372475G>A | GRCh38 |
| NC_000021.8:g.43792584G>A , CM000683.1:g.43792584G>A | GRCh37 |
| NC_000021.7:g.42665653G>A | NCBI36 |
| NG_011629.1:g.28617C>T | |
| NG_011629.2:g.28617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433957.7:c.*287C>T | ENSP00000411013.3:n.*287C>T | |
| ENST00000644384.2:c.*287C>T MANE Select | ENSP00000494414.1:n.*287C>T | |
| ENST00000652415.1:c.*287C>T | ENSP00000498756.1:n.*287C>T | |
| ENST00000291532.7:c.*287C>T | ENSP00000291532.3:n.*287C>T | |
| ENST00000398405.5:c.*287C>T | ENSP00000381442.1:n.*287C>T | |
| ENST00000433957.6:c.*287C>T | ENSP00000411013.2:n.*287C>T | |
| ENST00000474596.5:n.1520C>T | ||
| ENST00000476848.5:n.2384C>T | ||
| ENST00000482761.1:n.1939C>T | ||
| NM_001256317.1:c.*287C>T | NP_001243246.1:n.*287C>T | |
| NM_024022.2:c.*287C>T | NP_076927.1:n.*287C>T | |
| NM_032404.2:c.*287C>T | NP_115780.1:n.*287C>T | |
| NR_046020.1:n.2608C>T | ||
| NM_001256317.2:c.*287C>T | NP_001243246.1:n.*287C>T | |
| NM_024022.3:c.*287C>T | NP_076927.1:n.*287C>T | |
| NM_001256317.3:c.*287C>T MANE Select | NP_001243246.1:n.*287C>T | |
| NM_024022.4:c.*287C>T | NP_076927.1:n.*287C>T | |
| NM_032404.3:c.*287C>T | NP_115780.1:n.*287C>T |