Identifiers and link-outs to other resources
ClinVar Variation Id:
21341
ClinVar RCV Id:
RCV000020506
dbSNP Id:
rs80338798
User contributed link-outs
PubMed:
PMID:20301557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585761C>T , CM000665.2:g.12585761C>T | GRCh38 |
| NC_000003.11:g.12627260C>T , CM000665.1:g.12627260C>T | GRCh37 |
| NC_000003.10:g.12602260C>T | NCBI36 |
| NG_007467.1:g.83419G>A , LRG_413:g.83419G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_002880.3:c.1456G>A , LRG_413t1:c.1456G>A | NP_002871.1:p.Asp486Asn | |
| XM_005265355.1:c.1456G>A | XP_005265412.1:p.Asp486Asn | |
| XM_005265357.1:c.1357G>A | XP_005265414.1:p.Asp453Asn | |
| XM_005265358.3:c.1213G>A | XP_005265415.1:p.Asp405Asn | |
| XM_005265359.3:c.1114G>A | XP_005265416.1:p.Asp372Asn | |
| XM_005265360.1:c.1418-355G>A | XP_005265417.1:p.= | |
| XM_011533974.1:c.1456G>A | XP_011532276.1:p.Asp486Asn | |
| XM_011533975.1:c.1213G>A | XP_011532277.1:p.Asp405Asn | |
| NM_001354689.1:c.1516G>A VV | NP_001341618.1:p.Asp506Asn | |
| NM_001354690.1:c.1456G>A VV | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.1:c.1213G>A VV | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.1:c.1213G>A VV | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.1:c.1357G>A VV | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.1:c.1273G>A VV | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.1:c.1114G>A VV | NP_001341624.1:p.Asp372Asn | |
| NR_148940.1:n.1984G>A | ||
| NR_148941.1:n.1930G>A | ||
| NR_148942.1:n.1869G>A | ||
| XM_011533974.3:c.1456G>A | XP_011532276.1:p.Asp486Asn | |
| XM_017006966.1:c.1357G>A | XP_016862455.1:p.Asp453Asn | |
| NM_001354689.3:c.1516G>A VV MANE Preferred | NP_001341618.1:p.Asp506Asn | |
| NM_001354690.2:c.1456G>A VV | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.2:c.1213G>A VV | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.2:c.1213G>A VV | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.2:c.1357G>A VV | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.2:c.1273G>A VV | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.2:c.1114G>A VV | NP_001341624.1:p.Asp372Asn | |
| NR_148940.2:n.1900G>A | ||
| NR_148941.2:n.1846G>A | ||
| NR_148942.2:n.1785G>A | ||
| NM_001354690.3:c.1456G>A VV | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.3:c.1213G>A VV | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.3:c.1213G>A VV | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.3:c.1357G>A VV | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.3:c.1273G>A VV | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.3:c.1114G>A VV | NP_001341624.1:p.Asp372Asn | |
| NM_002880.4:c.1456G>A VV | NP_002871.1:p.Asp486Asn | |
| NR_148940.3:n.1900G>A | ||
| NR_148941.3:n.1846G>A | ||
| NR_148942.3:n.1785G>A | ||
| ENST00000251849.8:c.1456G>A | ENSP00000251849.4:p.Asp486Asn | |
| ENST00000423275.5:c.*1133G>A | ENSP00000401088.1:p.= | |
| ENST00000432427.2:n.1093G>A | ENSP00000398591.2:p.Asp365Asn | |
| ENST00000442415.6:c.1516G>A | ENSP00000401888.2:p.Asp506Asn | |
| ENST00000471449.1:n.145G>A |