Linked Data
ClinVar Variation Id:
1241595
ClinVar RCV Id:
RCV001645340
dbSNP Id:
rs11473
gnomAD v2:
19-582982-C-T
gnomAD v3:
19-582982-C-T
gnomAD v4:
19-582982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.582982C>T , CM000681.2:g.582982C>T | GRCh38 |
| NC_000019.9:g.582982C>T , CM000681.1:g.582982C>T | GRCh37 |
| NC_000019.8:g.533982C>T | NCBI36 |
| NG_007468.1:g.16658C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333511.9:c.*238C>T MANE Select | ENSP00000333769.3:n.*238C>T | |
| ENST00000346916.9:c.*238C>T | ENSP00000344707.4:n.*238C>T | |
| ENST00000353555.9:c.*238C>T | ENSP00000343809.4:n.*238C>T | |
| ENST00000571735.3:n.1631C>T | ||
| ENST00000573784.6:c.*238C>T | ENSP00000473393.2:n.*238C>T | |
| ENST00000576925.4:n.1833C>T | ||
| ENST00000576984.3:c.*238C>T | ENSP00000473528.2:n.*238C>T | |
| ENST00000618112.4:c.1038C>T | ENSP00000495088.2:n.1038C>T | |
| ENST00000679472.1:c.*144C>T | ENSP00000505067.1:n.*144C>T | |
| ENST00000680065.1:c.*234C>T | ENSP00000506020.1:n.*234C>T | |
| ENST00000680326.1:c.*238C>T | ENSP00000505863.1:n.*238C>T | |
| ENST00000680552.1:c.*238C>T | ENSP00000506321.1:n.*238C>T | |
| ENST00000333511.7:c.*238C>T | ENSP00000333769.3:n.*238C>T | |
| ENST00000346916.8:c.*238C>T | ENSP00000344707.3:n.*238C>T | |
| ENST00000353555.8:c.*238C>T | ENSP00000343809.4:n.*238C>T | |
| ENST00000545507.6:c.*238C>T | ENSP00000473664.1:n.*238C>T | |
| ENST00000571735.2:n.1645C>T | ||
| ENST00000614867.2:c.*275C>T | ENSP00000484624.1:n.*275C>T | |
| ENST00000618006.4:c.*238C>T | ENSP00000478958.1:n.*238C>T | |
| ENST00000618112.2:n.321C>T | ||
| NM_001728.3:c.*238C>T | NP_001719.2:n.*238C>T | |
| NM_198589.2:c.*238C>T | NP_940991.1:n.*238C>T | |
| NM_198590.2:c.*238C>T | NP_940992.1:n.*238C>T | |
| NM_198591.2:c.*238C>T | NP_940993.1:n.*238C>T | |
| XM_005259619.1:c.*234C>T | XP_005259676.1:n.*234C>T | |
| NM_001322243.1:c.*234C>T | NP_001309172.1:n.*234C>T | |
| XM_017027173.2:c.*234C>T | XP_016882662.1:n.*234C>T | |
| NM_001322243.2:c.*234C>T | NP_001309172.1:n.*234C>T | |
| NM_001728.4:c.*238C>T MANE Select | NP_001719.2:n.*238C>T | |
| NM_198589.3:c.*238C>T | NP_940991.1:n.*238C>T | |
| NM_198590.3:c.*238C>T | NP_940992.1:n.*238C>T | |
| NM_198591.3:c.*238C>T | NP_940993.1:n.*238C>T | |
| NM_198591.4:c.*238C>T | NP_940993.2:n.*238C>T |