Linked Data
ClinVar Variation Id:
41645
ClinVar RCV Id:
RCV000034553
RCV000115510
RCV000076263
RCV000148636
RCV000765667
RCV001079601
RCV001354468
RCV002265576
RCV003492329
dbSNP Id:
rs201118107
ExAC:
2:47698190 A / G
gnomAD v2:
2-47698190-A-G
gnomAD v3:
2-47471051-A-G
gnomAD v4:
2-47471051-A-G
ERepo:
CA019161/MONDO:0005835/137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47471051A>G , CM000664.2:g.47471051A>G | GRCh38 |
| NC_000002.11:g.47698190A>G , CM000664.1:g.47698190A>G | GRCh37 |
| NC_000002.10:g.47551694A>G | NCBI36 |
| NG_007110.2:g.72928A>G , LRG_218:g.72928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1748A>G | ENSP00000495641.2:p.Asn583Ser | |
| ENST00000233146.7:c.1748A>G MANE Select | ENSP00000233146.2:p.Asn583Ser | |
| ENST00000543555.6:c.1550A>G | ENSP00000442697.1:p.Asn517Ser | |
| ENST00000644092.1:c.*48A>G | ENSP00000496351.1:n.*48A>G | |
| ENST00000645339.1:c.1748A>G | ENSP00000496441.1:p.Asn583Ser | |
| ENST00000645506.1:c.1748A>G | ENSP00000495455.1:p.Asn583Ser | |
| ENST00000646415.1:c.1748A>G | ENSP00000495543.1:p.Asn583Ser | |
| ENST00000233146.6:c.1748A>G | ENSP00000233146.2:p.Asn583Ser | |
| ENST00000406134.5:c.1748A>G | ENSP00000384199.1:p.Asn583Ser | |
| ENST00000543555.5:c.1550A>G | ENSP00000442697.1:p.Asn517Ser | |
| ENST00000610696.4:c.*144A>G | ENSP00000483159.1:n.*144A>G | |
| ENST00000613514.4:c.*288A>G | ENSP00000484137.1:n.*288A>G | |
| ENST00000617333.3:c.*514A>G | ENSP00000482468.1:n.*514A>G | |
| ENST00000617938.4:c.*720A>G | ENSP00000481158.1:n.*720A>G | |
| ENST00000621359.2:c.1748A>G | ENSP00000481416.1:p.Asn583Ser | |
| NM_000251.2:c.1748A>G , LRG_218t1:c.1748A>G | NP_000242.1:p.Asn583Ser | |
| NM_001258281.1:c.1550A>G | NP_001245210.1:p.Asn517Ser | |
| XM_005264332.2:c.1748A>G | XP_005264389.2:p.Asn583Ser | |
| XM_011532867.1:c.1748A>G | XP_011531169.1:p.Asn583Ser | |
| XR_939685.1:n.1820A>G | ||
| XM_005264332.4:c.1748A>G | XP_005264389.2:p.Asn583Ser | |
| XM_011532867.2:c.1748A>G | XP_011531169.1:p.Asn583Ser | |
| XR_001738747.2:n.1810A>G | ||
| XR_939685.2:n.1810A>G | ||
| NM_000251.3:c.1748A>G MANE Select | NP_000242.1:p.Asn583Ser |