Linked Data
dbSNP Id:
rs753526746
ExAC:
21:43802041 G / A
gnomAD v2:
21-43802041-G-A
gnomAD v4:
21-42381932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42381932G>A , CM000683.2:g.42381932G>A | GRCh38 |
| NC_000021.8:g.43802041G>A , CM000683.1:g.43802041G>A | GRCh37 |
| NC_000021.7:g.42675110G>A | NCBI36 |
| NG_011629.1:g.19160C>T | |
| NG_011629.2:g.19160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.952+133C>T | ENSP00000411013.3:n.952+133C>T | |
| ENST00000644384.2:c.952+133C>T MANE Select | ENSP00000494414.1:n.952+133C>T | |
| ENST00000652415.1:c.952+133C>T | ENSP00000498756.1:n.952+133C>T | |
| ENST00000291532.7:c.952+133C>T | ENSP00000291532.3:n.952+133C>T | |
| ENST00000398397.3:c.*50C>T | ENSP00000381434.3:n.*50C>T | |
| ENST00000398405.5:c.946+133C>T | ENSP00000381442.1:n.946+133C>T | |
| ENST00000433957.6:c.952+133C>T | ENSP00000411013.2:n.952+133C>T | |
| ENST00000474596.5:n.820+133C>T | ||
| ENST00000476848.5:n.1687+133C>T | ||
| ENST00000478680.1:n.362C>T | ||
| ENST00000482761.1:n.1239+133C>T | ||
| NM_001256317.1:c.952+133C>T | NP_001243246.1:n.952+133C>T | |
| NM_024022.2:c.952+133C>T | NP_076927.1:n.952+133C>T | |
| NM_032404.2:c.571+133C>T | NP_115780.1:n.571+133C>T | |
| NM_032405.1:c.*50C>T | NP_115781.1:n.*50C>T | |
| NR_046020.1:n.1908+133C>T | ||
| NM_001256317.2:c.952+133C>T | NP_001243246.1:n.952+133C>T | |
| NM_024022.3:c.952+133C>T | NP_076927.1:n.952+133C>T | |
| NM_032405.2:c.*50C>T | NP_115781.1:n.*50C>T | |
| NM_001256317.3:c.952+133C>T MANE Select | NP_001243246.1:n.952+133C>T | |
| NM_024022.4:c.952+133C>T | NP_076927.1:n.952+133C>T | |
| NM_032404.3:c.571+133C>T | NP_115780.1:n.571+133C>T |