Linked Data
ClinVar Variation Id:
2736992
ClinVar RCV Id:
RCV003560155
dbSNP Id:
rs540715620
gnomAD v3:
21-42380137-C-A
gnomAD v4:
21-42380137-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42380137C>A , CM000683.2:g.42380137C>A | GRCh38 |
| NC_000021.8:g.43800246C>A , CM000683.1:g.43800246C>A | GRCh37 |
| NC_000021.7:g.42673315C>A | NCBI36 |
| NG_011629.1:g.20955G>T | |
| NG_011629.2:g.20955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.1028G>T | ENSP00000411013.3:p.Trp343Leu | |
| ENST00000644384.2:c.1028G>T MANE Select | ENSP00000494414.1:p.Trp343Leu | |
| ENST00000652415.1:c.1028G>T | ENSP00000498756.1:p.Trp343Leu | |
| ENST00000291532.7:c.1028G>T | ENSP00000291532.3:p.Trp343Leu | |
| ENST00000398405.5:c.1022G>T | ENSP00000381442.1:p.Trp341Leu | |
| ENST00000433957.6:c.1028G>T | ENSP00000411013.2:p.Trp343Leu | |
| ENST00000474596.5:n.896G>T | ||
| ENST00000476848.5:n.1763G>T | ||
| ENST00000482761.1:n.1315G>T | ||
| NM_001256317.1:c.1028G>T | NP_001243246.1:p.Trp343Leu | |
| NM_024022.2:c.1028G>T | NP_076927.1:p.Trp343Leu | |
| NM_032404.2:c.647G>T | NP_115780.1:p.Trp216Leu | |
| NR_046020.1:n.1984G>T | ||
| NM_001256317.2:c.1028G>T | NP_001243246.1:p.Trp343Leu | |
| NM_024022.3:c.1028G>T | NP_076927.1:p.Trp343Leu | |
| NM_001256317.3:c.1028G>T MANE Select | NP_001243246.1:p.Trp343Leu | |
| NM_024022.4:c.1028G>T | NP_076927.1:p.Trp343Leu | |
| NM_032404.3:c.647G>T | NP_115780.1:p.Trp216Leu |