Linked Data
ClinVar Variation Id:
799822
ClinVar RCV Id:
RCV000983441
dbSNP Id:
rs199535487
ExAC:
2:136872987 C / T
gnomAD v2:
2-136872987-C-T
gnomAD v3:
2-136115417-C-T
gnomAD v4:
2-136115417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136115417C>T , CM000664.2:g.136115417C>T | GRCh38 |
| NC_000002.11:g.136872987C>T , CM000664.1:g.136872987C>T | GRCh37 |
| NC_000002.10:g.136589457C>T | NCBI36 |
| NG_011587.1:g.7739G>A , LRG_51:g.7739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696136.1:c.499G>A | ENSP00000512428.1:p.Asp167Asn | |
| ENST00000696137.1:c.466G>A | ENSP00000512429.1:p.Asp156Asn | |
| ENST00000696152.1:c.466G>A | ENSP00000512443.1:p.Asp156Asn | |
| ENST00000696228.1:c.499G>A | ENSP00000512494.1:p.Asp167Asn | |
| ENST00000241393.4:c.511G>A MANE Select | ENSP00000241393.3:p.Asp171Asn | |
| ENST00000241393.3:c.511G>A | ENSP00000241393.3:p.Asp171Asn | |
| ENST00000409817.1:c.523G>A | ENSP00000386884.1:p.Asp175Asn | |
| ENST00000466288.1:n.705G>A | ||
| NM_001008540.1:c.523G>A | NP_001008540.1:p.Asp175Asn | |
| NM_003467.2:c.511G>A , LRG_51t1:c.511G>A | NP_003458.1:p.Asp171Asn | |
| NM_001008540.2:c.523G>A | NP_001008540.1:p.Asp175Asn | |
| NM_001348056.1:c.724G>A | NP_001334985.1:p.Asp242Asn | |
| NM_001348059.1:c.610G>A | NP_001334988.1:p.Asp204Asn | |
| NM_001348060.1:c.466G>A | NP_001334989.1:p.Asp156Asn | |
| NM_001348056.2:c.724G>A | NP_001334985.1:p.Asp242Asn | |
| NM_001348059.2:c.610G>A | NP_001334988.1:p.Asp204Asn | |
| NM_001348060.2:c.466G>A | NP_001334989.1:p.Asp156Asn | |
| NM_003467.3:c.511G>A MANE Select | NP_003458.1:p.Asp171Asn |