Linked Data
ClinVar Variation Id:
350813
dbSNP Id:
rs774619135
ExAC:
5:131721130 G / A
gnomAD v2:
5-131721130-G-A
gnomAD v3:
5-132385438-G-A
gnomAD v4:
5-132385438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385438G>A , CM000667.2:g.132385438G>A | GRCh38 |
| NC_000005.9:g.131721130G>A , CM000667.1:g.131721130G>A | GRCh37 |
| NC_000005.8:g.131749029G>A | NCBI36 |
| NG_008982.1:g.20730G>A | |
| NG_008982.2:g.20735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1124G>A | ENSP00000388838.2:n.665+1124G>A | |
| ENST00000435065.7:c.835G>A | ENSP00000402760.2:p.Asp279Asn | |
| ENST00000448810.6:c.763G>A | ENSP00000401860.2:p.Asp255Asn | |
| ENST00000686757.1:c.782G>A | ENSP00000510721.1:p.Arg261Lys | |
| ENST00000687740.1:n.1923G>A | ||
| ENST00000688151.1:n.1955G>A | ||
| ENST00000689271.1:c.671+1118G>A | ENSP00000510797.1:n.671+1118G>A | |
| ENST00000690900.1:c.734G>A | ENSP00000510703.1:p.Arg245Lys | |
| ENST00000692212.1:n.589G>A | ||
| ENST00000692355.1:c.204+1137G>A | ||
| ENST00000692413.1:c.782G>A | ENSP00000509374.1:p.Arg261Lys | |
| ENST00000692825.1:c.831G>A | ENSP00000509447.1:n.831G>A | |
| ENST00000693308.1:c.776G>A | ENSP00000509770.1:p.Arg259Lys | |
| ENST00000693763.1:n.1923G>A | ||
| ENST00000245407.8:c.763G>A MANE Select | ENSP00000245407.3:p.Asp255Asn | |
| ENST00000245407.7:c.763G>A | ENSP00000245407.3:p.Asp255Asn | |
| ENST00000415928.5:c.532G>A | ENSP00000388838.1:p.Asp178Asn | |
| ENST00000435065.6:c.835G>A | ENSP00000402760.2:p.Asp279Asn | |
| ENST00000437841.6:c.*78G>A | ENSP00000400553.1:n.*78G>A | |
| ENST00000448810.5:c.111G>A | ||
| ENST00000461013.5:n.8185G>A | ||
| NM_001308122.1:c.835G>A | NP_001295051.1:p.Asp279Asn | |
| NM_003060.3:c.763G>A | NP_003051.1:p.Asp255Asn | |
| XM_011543590.1:c.145G>A | XP_011541892.1:p.Asp49Asn | |
| XR_427718.1:n.1123G>A | ||
| XR_948290.1:n.1104G>A | ||
| XR_948291.1:n.1117G>A | ||
| XM_011543590.2:c.145G>A | XP_011541892.1:p.Asp49Asn | |
| XM_017009778.2:c.235G>A | XP_016865267.1:p.Asp79Asn | |
| XR_001742215.1:n.1104G>A | ||
| XR_001742216.1:n.1123G>A | ||
| XR_427718.2:n.1123G>A | ||
| XR_948290.2:n.1104G>A | ||
| XR_948291.2:n.1117G>A | ||
| NM_003060.4:c.763G>A MANE Select | NP_003051.1:p.Asp255Asn | |
| NM_001308122.2:c.835G>A | NP_001295051.1:p.Asp279Asn |