Linked Data
ClinVar Variation Id:
252225
dbSNP Id:
rs879255142
gnomAD v2:
19-11231177-G-A
gnomAD v3:
19-11120501-G-A
gnomAD v4:
19-11120501-G-A
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120501G>A , CM000681.2:g.11120501G>A | GRCh38 |
| NC_000019.9:g.11231177G>A , CM000681.1:g.11231177G>A | GRCh37 |
| NC_000019.8:g.11092177G>A | NCBI36 |
| NG_009060.1:g.36121G>A , LRG_274:g.36121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2377G>A | ENSP00000252444.6:p.Asp793Asn | |
| ENST00000559340.2:c.*188G>A | ENSP00000453696.2:n.*188G>A | |
| ENST00000560467.2:c.1999G>A | ENSP00000453513.2:p.Asp667Asn | |
| ENST00000558518.6:c.2119G>A MANE Select | ENSP00000454071.1:p.Asp707Asn | |
| ENST00000252444.9:c.2373G>A | ||
| ENST00000455727.6:c.1615G>A | ENSP00000397829.2:p.Asp539Asn | |
| ENST00000535915.5:c.1996G>A | ENSP00000440520.1:p.Asp666Asn | |
| ENST00000545707.5:c.1606+268G>A | ENSP00000437639.1:n.1606+268G>A | |
| ENST00000557933.5:c.2119G>A | ENSP00000453557.1:p.Asp707Asn | |
| ENST00000558013.5:c.2119G>A | ENSP00000453346.1:p.Asp707Asn | |
| ENST00000558518.5:c.2119G>A | ENSP00000454071.1:p.Asp707Asn | |
| NM_000527.4:c.2119G>A , LRG_274t1:c.2119G>A | NP_000518.1:p.Asp707Asn | |
| NM_001195798.1:c.2119G>A | NP_001182727.1:p.Asp707Asn | |
| NM_001195799.1:c.1996G>A | NP_001182728.1:p.Asp666Asn | |
| NM_001195800.1:c.1615G>A | NP_001182729.1:p.Asp539Asn | |
| NM_001195803.1:c.1606+268G>A | NP_001182732.1:n.1606+268G>A | |
| XM_011528010.1:c.2119G>A | XP_011526312.1:p.Asp707Asn | |
| XM_011528011.1:c.1738G>A | XP_011526313.1:p.Asp580Asn | |
| XR_244074.2:n.2129G>A | ||
| XM_011528010.2:c.2119G>A | XP_011526312.1:p.Asp707Asn | |
| XR_001753685.2:n.2236G>A | ||
| XR_001753686.2:n.2096G>A | ||
| NM_000527.5:c.2119G>A MANE Select | NP_000518.1:p.Asp707Asn | |
| NM_001195798.2:c.2119G>A | NP_001182727.1:p.Asp707Asn | |
| NM_001195799.2:c.1996G>A | NP_001182728.1:p.Asp666Asn | |
| NM_001195800.2:c.1615G>A | NP_001182729.1:p.Asp539Asn | |
| NM_001195803.2:c.1606+268G>A | NP_001182732.1:n.1606+268G>A |