Linked Data
ClinVar Variation Id:
2588835
ClinVar RCV Id:
RCV004334382
dbSNP Id:
rs778597602
ExAC:
20:44576218 G / A
gnomAD v2:
20-44576218-G-A
gnomAD v3:
20-45947579-G-A
gnomAD v4:
20-45947579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947579G>A , CM000682.2:g.45947579G>A | GRCh38 |
| NC_000020.10:g.44576218G>A , CM000682.1:g.44576218G>A | GRCh37 |
| NC_000020.9:g.44009625G>A | NCBI36 |
| NG_029772.1:g.29616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1939G>A MANE Select | ENSP00000361486.3:p.Asp647Asn | |
| ENST00000372409.7:c.1939G>A | ENSP00000361486.3:p.Asp647Asn | |
| ENST00000479348.2:c.880G>A | ||
| NM_022104.3:c.1939G>A | NP_071387.1:p.Asp647Asn | |
| XM_011528980.1:c.1939G>A | XP_011527282.1:p.Asp647Asn | |
| XM_011528981.1:c.1939G>A | XP_011527283.1:p.Asp647Asn | |
| XM_011528982.1:c.895G>A | XP_011527284.1:p.Asp299Asn | |
| XM_011528980.3:c.1939G>A | XP_011527282.1:p.Asp647Asn | |
| XM_011528981.3:c.1939G>A | XP_011527283.1:p.Asp647Asn | |
| XM_017028013.2:c.1939G>A | XP_016883502.1:p.Asp647Asn | |
| XM_017028014.2:c.895G>A | XP_016883503.1:p.Asp299Asn | |
| NM_022104.4:c.1939G>A MANE Select | NP_071387.1:p.Asp647Asn |