Linked Data
ClinVar Variation Id:
2715862
ClinVar RCV Id:
RCV003545945
dbSNP Id:
rs368016590
ExAC:
18:47101774 G / A
gnomAD v2:
18-47101774-G-A
gnomAD v3:
18-49575404-G-A
gnomAD v4:
18-49575404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49575404G>A , CM000680.2:g.49575404G>A | GRCh38 |
| NC_000018.9:g.47101774G>A , CM000680.1:g.47101774G>A | GRCh37 |
| NC_000018.8:g.45355772G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.607G>A MANE Select | ENSP00000261292.4:p.Asp203Asn | |
| ENST00000261292.8:c.607G>A | ENSP00000261292.4:p.Asp203Asn | |
| ENST00000427224.6:c.571+5856G>A | ENSP00000387978.2:n.571+5856G>A | |
| ENST00000577628.5:c.715G>A | ENSP00000463835.1:p.Asp239Asn | |
| ENST00000580036.5:c.607G>A | ENSP00000462420.1:p.Asp203Asn | |
| NM_001308006.1:c.571+5856G>A | NP_001294935.1:n.571+5856G>A | |
| NM_006033.2:c.607G>A | NP_006024.1:p.Asp203Asn | |
| NM_006033.3:c.607G>A | NP_006024.1:p.Asp203Asn | |
| XM_005258390.1:c.715G>A | XP_005258447.1:p.Asp239Asn | |
| XM_011526265.1:c.679+5856G>A | XP_011524567.1:n.679+5856G>A | |
| XM_011526267.1:c.367G>A | XP_011524569.1:p.Asp123Asn | |
| XM_011526265.3:c.679+5856G>A | XP_011524567.1:n.679+5856G>A | |
| XM_017026095.1:c.16G>A | XP_016881584.1:p.Asp6Asn | |
| NM_006033.4:c.607G>A MANE Select | NP_006024.1:p.Asp203Asn | |
| NM_001308006.2:c.571+5856G>A | NP_001294935.1:n.571+5856G>A |