Linked Data
ClinVar Variation Id:
214290
ClinVar RCV Id:
RCV000199657
dbSNP Id:
rs863223950
gnomAD v2:
11-111897001-A-G
gnomAD v4:
11-112026277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112026277A>G , CM000673.2:g.112026277A>G | GRCh38 |
| NC_000011.9:g.111897001A>G , CM000673.1:g.111897001A>G | GRCh37 |
| NC_000011.8:g.111402211A>G | NCBI36 |
| NG_013342.1:g.6464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.359A>G | ENSP00000518862.1:p.Asn120Ser | |
| ENST00000280346.11:c.359A>G MANE Select | ENSP00000280346.7:p.Asn120Ser | |
| ENST00000527231.2:n.406A>G | ||
| ENST00000531306.2:c.359A>G | ENSP00000433432.2:p.Asn120Ser | |
| ENST00000679368.1:c.359A>G | ENSP00000505314.1:p.Asn120Ser | |
| ENST00000679466.1:n.406A>G | ||
| ENST00000679614.1:c.24+781A>G | ENSP00000506007.1:n.24+781A>G | |
| ENST00000679815.1:c.359A>G | ENSP00000504880.1:p.Asn120Ser | |
| ENST00000679829.1:n.406A>G | ||
| ENST00000679878.1:c.326A>G | ENSP00000505567.1:p.Asn109Ser | |
| ENST00000680010.1:c.359A>G | ENSP00000505768.1:p.Asn120Ser | |
| ENST00000680331.1:c.359A>G | ENSP00000506707.1:p.Asn120Ser | |
| ENST00000680411.1:c.104A>G | ENSP00000505915.1:p.Asn35Ser | |
| ENST00000681316.1:c.359A>G | ENSP00000506560.1:p.Asn120Ser | |
| ENST00000681328.1:c.359A>G | ENSP00000506355.1:p.Asn120Ser | |
| ENST00000681339.1:c.359A>G | ENSP00000506167.1:p.Asn120Ser | |
| ENST00000681638.1:c.359A>G | ENSP00000506090.1:p.Asn120Ser | |
| ENST00000280346.10:c.359A>G | ENSP00000280346.6:p.Asn120Ser | |
| ENST00000393051.5:c.359A>G | ENSP00000376771.1:p.Asn120Ser | |
| ENST00000531306.1:c.236A>G | ENSP00000433432.1:p.Asn79Ser | |
| ENST00000533297.1:c.*34A>G | ENSP00000435374.1:n.*34A>G | |
| NM_001931.4:c.359A>G | NP_001922.2:p.Asn120Ser | |
| XM_011542647.1:c.359A>G | XP_011540949.1:p.Asn120Ser | |
| XM_011542647.3:c.359A>G | XP_011540949.1:p.Asn120Ser | |
| NM_001372031.1:c.359A>G | NP_001358960.1:p.Asn120Ser | |
| NM_001372032.1:c.359A>G | NP_001358961.1:p.Asn120Ser | |
| NM_001372033.1:c.359A>G | NP_001358962.1:p.Asn120Ser | |
| NM_001372034.1:c.326A>G | NP_001358963.1:p.Asn109Ser | |
| NM_001372035.1:c.359A>G | NP_001358964.1:p.Asn120Ser | |
| NM_001372036.1:c.239-6A>G | NP_001358965.1:n.239-6A>G | |
| NM_001372037.1:c.191A>G | NP_001358966.1:p.Asn64Ser | |
| NM_001372038.1:c.359A>G | NP_001358967.1:p.Asn120Ser | |
| NM_001372039.1:c.359A>G | NP_001358968.1:p.Asn120Ser | |
| NM_001372040.1:c.359A>G | NP_001358969.1:p.Asn120Ser | |
| NM_001372041.1:c.359A>G | NP_001358970.1:p.Asn120Ser | |
| NM_001372042.1:c.-108A>G | NP_001358971.1:n.-108A>G | |
| NM_001931.5:c.359A>G MANE Select | NP_001922.2:p.Asn120Ser | |
| NR_164072.1:n.424A>G |