Linked Data
ClinVar Variation Id:
4944
dbSNP Id:
rs137852999
gnomAD v4:
21-42383062-C-G
PubMed:
PMID:11462234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42383062C>G , CM000683.2:g.42383062C>G | GRCh38 |
| NC_000021.8:g.43803171C>G , CM000683.1:g.43803171C>G | GRCh37 |
| NC_000021.7:g.42676240C>G | NCBI36 |
| NG_011629.1:g.18030G>C | |
| NG_011629.2:g.18030G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433957.7:c.753G>C | ENSP00000411013.3:p.Trp251Cys | |
| ENST00000644384.2:c.753G>C MANE Select | ENSP00000494414.1:p.Trp251Cys | |
| ENST00000652415.1:c.753G>C | ENSP00000498756.1:p.Trp251Cys | |
| ENST00000291532.7:c.753G>C | ENSP00000291532.3:p.Trp251Cys | |
| ENST00000398397.3:c.753G>C | ENSP00000381434.3:p.Trp251Cys | |
| ENST00000398405.5:c.747G>C | ENSP00000381442.1:p.Trp249Cys | |
| ENST00000433957.6:c.753G>C | ENSP00000411013.2:p.Trp251Cys | |
| ENST00000474596.5:n.621G>C | ||
| ENST00000476848.5:n.690G>C | ||
| ENST00000482761.1:n.1040G>C | ||
| NM_001256317.1:c.753G>C | NP_001243246.1:p.Trp251Cys | |
| NM_024022.2:c.753G>C | NP_076927.1:p.Trp251Cys | |
| NM_032404.2:c.372G>C | NP_115780.1:p.Trp124Cys | |
| NM_032405.1:c.753G>C | NP_115781.1:p.Trp251Cys | |
| NR_046020.1:n.1709G>C | ||
| NM_001256317.2:c.753G>C | NP_001243246.1:p.Trp251Cys | |
| NM_024022.3:c.753G>C | NP_076927.1:p.Trp251Cys | |
| NM_032405.2:c.753G>C | NP_115781.1:p.Trp251Cys | |
| NM_001256317.3:c.753G>C MANE Select | NP_001243246.1:p.Trp251Cys | |
| NM_024022.4:c.753G>C | NP_076927.1:p.Trp251Cys | |
| NM_032404.3:c.372G>C | NP_115780.1:p.Trp124Cys |