Linked Data
ClinVar Variation Id:
38881
dbSNP Id:
rs202247823
ExAC:
3:136048854 A / G
gnomAD v2:
3-136048854-A-G
gnomAD v3:
3-136330012-A-G
gnomAD v4:
3-136330012-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136330012A>G , CM000665.2:g.136330012A>G | GRCh38 |
| NC_000003.11:g.136048854A>G , CM000665.1:g.136048854A>G | GRCh37 |
| NC_000003.10:g.137531544A>G | NCBI36 |
| NG_008939.1:g.84688A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251654.9:c.1606A>G MANE Select | ENSP00000251654.4:p.Asn536Asp | |
| ENST00000251654.8:c.1606A>G | ENSP00000251654.4:p.Asn536Asp | |
| ENST00000462637.5:c.1537A>G | ENSP00000420391.1:p.Asn513Asp | |
| ENST00000466072.5:c.1666A>G | ENSP00000420158.1:p.Asn556Asp | |
| ENST00000468777.5:c.1699A>G | ENSP00000419129.1:p.Asn567Asp | |
| ENST00000469217.5:c.1666A>G | ENSP00000419027.1:p.Asn556Asp | |
| ENST00000471595.5:c.1578+28A>G | ENSP00000417549.1:n.1578+28A>G | |
| ENST00000473073.1:n.1807A>G | ||
| ENST00000478469.5:c.885-4268A>G | ENSP00000420759.1:n.885-4268A>G | |
| ENST00000482086.5:c.1258A>G | ENSP00000417253.1:p.Asn420Asp | |
| ENST00000483687.5:c.1549A>G | ENSP00000420639.1:p.Asn517Asp | |
| ENST00000484181.5:c.*287A>G | ENSP00000417937.1:n.*287A>G | |
| ENST00000490504.5:c.1435A>G | ENSP00000418307.1:p.Asn479Asp | |
| NM_000532.4:c.1606A>G | NP_000523.2:p.Asn536Asp | |
| NM_001178014.1:c.1666A>G | NP_001171485.1:p.Asn556Asp | |
| NM_000532.5:c.1606A>G MANE Select | NP_000523.2:p.Asn536Asp | |
| NM_001178014.2:c.1666A>G | NP_001171485.1:p.Asn556Asp |