Linked Data
ClinVar Variation Id:
226325
dbSNP Id:
rs199774121
ExAC:
19:11216011 C / A
gnomAD v2:
19-11216011-C-A
gnomAD v4:
19-11105335-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105335C>A , CM000681.2:g.11105335C>A | GRCh38 |
| NC_000019.9:g.11216011C>A , CM000681.1:g.11216011C>A | GRCh37 |
| NC_000019.8:g.11077011C>A | NCBI36 |
| NG_009060.1:g.20955C>A , LRG_274:g.20955C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.687C>A | ENSP00000252444.6:p.Cys229Ter | |
| ENST00000559340.2:c.429C>A | ENSP00000453696.2:p.Cys143Ter | |
| ENST00000560467.2:c.429C>A | ENSP00000453513.2:p.Cys143Ter | |
| ENST00000558518.6:c.429C>A MANE Select | ENSP00000454071.1:p.Cys143Ter | |
| ENST00000252444.9:c.683C>A | ||
| ENST00000455727.6:c.314-2057C>A | ENSP00000397829.2:n.314-2057C>A | |
| ENST00000535915.5:c.306C>A | ENSP00000440520.1:p.Cys102Ter | |
| ENST00000545707.5:c.314-1230C>A | ENSP00000437639.1:n.314-1230C>A | |
| ENST00000557933.5:c.429C>A | ENSP00000453557.1:p.Cys143Ter | |
| ENST00000558013.5:c.429C>A | ENSP00000453346.1:p.Cys143Ter | |
| ENST00000558518.5:c.429C>A | ENSP00000454071.1:p.Cys143Ter | |
| ENST00000560467.1:c.29C>A | ||
| NM_000527.4:c.429C>A , LRG_274t1:c.429C>A | NP_000518.1:p.Cys143Ter | |
| NM_001195798.1:c.429C>A | NP_001182727.1:p.Cys143Ter | |
| NM_001195799.1:c.306C>A | NP_001182728.1:p.Cys102Ter | |
| NM_001195800.1:c.314-2057C>A | NP_001182729.1:n.314-2057C>A | |
| NM_001195803.1:c.314-1230C>A | NP_001182732.1:n.314-1230C>A | |
| XM_011528010.1:c.429C>A | XP_011526312.1:p.Cys143Ter | |
| XM_011528011.1:c.314-1230C>A | XP_011526313.1:n.314-1230C>A | |
| XR_244074.2:n.579C>A | ||
| XM_011528010.2:c.429C>A | XP_011526312.1:p.Cys143Ter | |
| XR_001753685.2:n.546C>A | ||
| XR_001753686.2:n.546C>A | ||
| NM_000527.5:c.429C>A MANE Select | NP_000518.1:p.Cys143Ter | |
| NM_001195798.2:c.429C>A | NP_001182727.1:p.Cys143Ter | |
| NM_001195799.2:c.306C>A | NP_001182728.1:p.Cys102Ter | |
| NM_001195800.2:c.314-2057C>A | NP_001182729.1:n.314-2057C>A | |
| NM_001195803.2:c.314-1230C>A | NP_001182732.1:n.314-1230C>A |