Linked Data
ClinVar Variation Id:
201988
dbSNP Id:
rs200343561
ExAC:
12:32993981 T / C
gnomAD v2:
12-32993981-T-C
gnomAD v3:
12-32841047-T-C
gnomAD v4:
12-32841047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841047T>C , CM000674.2:g.32841047T>C | GRCh38 |
| NC_000012.11:g.32993981T>C , CM000674.1:g.32993981T>C | GRCh37 |
| NC_000012.10:g.32885248T>C | NCBI36 |
| NG_009000.1:g.60800A>G , LRG_398:g.60800A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700559.2:c.1537A>G | ENSP00000515065.2:p.Asn513Asp | |
| ENST00000700563.2:c.1537A>G | ENSP00000515066.2:p.Asn513Asp | |
| ENST00000700556.1:c.8A>G | ||
| ENST00000700559.1:c.752A>G | ||
| ENST00000700560.1:n.752A>G | ||
| ENST00000700561.1:n.878A>G | ||
| ENST00000700563.1:c.1491A>G | ||
| ENST00000700564.1:n.1541A>G | ||
| ENST00000700565.1:n.1390A>G | ||
| ENST00000070846.11:c.1669A>G | ENSP00000070846.6:p.Asn557Asp | |
| ENST00000340811.9:c.1537A>G MANE Select | ENSP00000342800.5:p.Asn513Asp | |
| ENST00000070846.10:c.1669A>G | ENSP00000070846.6:p.Asn557Asp | |
| ENST00000340811.8:c.1537A>G | ENSP00000342800.4:p.Asn513Asp | |
| ENST00000613243.1:c.1669A>G | ENSP00000478295.1:p.Asn557Asp | |
| NM_001005242.2:c.1537A>G | NP_001005242.2:p.Asn513Asp | |
| NM_004572.3:c.1669A>G , LRG_398t1:c.1669A>G | NP_004563.2:p.Asn557Asp | |
| NM_001005242.3:c.1537A>G MANE Select | NP_001005242.2:p.Asn513Asp | |
| NM_004572.4:c.1669A>G | NP_004563.2:p.Asn557Asp |