Linked Data
ClinVar Variation Id:
948749
dbSNP Id:
rs1204905333
gnomAD v2:
10-112572166-A-G
gnomAD v3:
10-110812408-A-G
gnomAD v4:
10-110812408-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812408A>G , CM000672.2:g.110812408A>G | GRCh38 |
| NC_000010.10:g.112572166A>G , CM000672.1:g.112572166A>G | GRCh37 |
| NC_000010.9:g.112562156A>G | NCBI36 |
| NG_021177.1:g.173012A>G , LRG_382:g.173012A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2011A>G MANE Select | ENSP00000358532.3:p.Asn671Asp | |
| ENST00000369519.3:c.2011A>G | ENSP00000358532.3:p.Asn671Asp | |
| NM_001134363.2:c.2011A>G | NP_001127835.2:p.Asn671Asp | |
| XM_011539697.1:c.1627A>G | XP_011537999.1:p.Asn543Asp | |
| XM_017016103.2:c.1846A>G | XP_016871592.1:p.Asn616Asp | |
| XM_017016104.2:c.1627A>G | XP_016871593.1:p.Asn543Asp | |
| NM_001134363.3:c.2011A>G MANE Select | NP_001127835.2:p.Asn671Asp |