Linked Data
ClinVar Variation Id:
1707674
ClinVar RCV Id:
RCV002286653
dbSNP Id:
rs750162911
ExAC:
5:131726428 A / G
gnomAD v2:
5-131726428-A-G
gnomAD v4:
5-132390736-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390736A>G , CM000667.2:g.132390736A>G | GRCh38 |
| NC_000005.9:g.131726428A>G , CM000667.1:g.131726428A>G | GRCh37 |
| NC_000005.8:g.131754327A>G | NCBI36 |
| NG_008982.1:g.26028A>G | |
| NG_008982.2:g.26033A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.940A>G | ENSP00000388838.2:p.Asn314Asp | |
| ENST00000435065.7:c.1171A>G | ENSP00000402760.2:p.Asn391Asp | |
| ENST00000448810.6:c.1053-40A>G | ENSP00000401860.2:n.1053-40A>G | |
| ENST00000685543.1:n.1240A>G | ||
| ENST00000686757.1:c.*263A>G | ENSP00000510721.1:n.*263A>G | |
| ENST00000687740.1:n.3784A>G | ||
| ENST00000688151.1:n.2409A>G | ||
| ENST00000689271.1:c.946A>G | ENSP00000510797.1:p.Asn316Asp | |
| ENST00000690900.1:c.*263A>G | ENSP00000510703.1:n.*263A>G | |
| ENST00000692212.1:n.2711A>G | ||
| ENST00000692355.1:c.352A>G | ||
| ENST00000692413.1:c.1081A>G | ENSP00000509374.1:p.Asn361Asp | |
| ENST00000692825.1:c.1167A>G | ENSP00000509447.1:n.1167A>G | |
| ENST00000693308.1:c.1147A>G | ENSP00000509770.1:p.Asn383Asp | |
| ENST00000693763.1:n.2259A>G | ||
| ENST00000245407.8:c.1099A>G MANE Select | ENSP00000245407.3:p.Asn367Asp | |
| ENST00000245407.7:c.1099A>G | ENSP00000245407.3:p.Asn367Asp | |
| ENST00000435065.6:c.1171A>G | ENSP00000402760.2:p.Asn391Asp | |
| ENST00000447841.5:c.112-1697A>G | ||
| ENST00000448810.5:c.401-40A>G | ||
| ENST00000461013.5:n.8521A>G | ||
| ENST00000475308.1:n.1777A>G | ||
| ENST00000479605.5:n.202A>G | ||
| NM_001308122.1:c.1171A>G | NP_001295051.1:p.Asn391Asp | |
| NM_003060.3:c.1099A>G | NP_003051.1:p.Asn367Asp | |
| XM_011543590.1:c.481A>G | XP_011541892.1:p.Asn161Asp | |
| XR_427718.1:n.1459A>G | ||
| XR_948290.1:n.1394-1697A>G | ||
| XR_948291.1:n.1453A>G | ||
| XM_011543590.2:c.481A>G | XP_011541892.1:p.Asn161Asp | |
| XM_017009778.2:c.571A>G | XP_016865267.1:p.Asn191Asp | |
| XR_001742215.1:n.1394-40A>G | ||
| XR_001742216.1:n.1413-40A>G | ||
| XR_427718.2:n.1459A>G | ||
| XR_948290.2:n.1394-1697A>G | ||
| XR_948291.2:n.1453A>G | ||
| NM_003060.4:c.1099A>G MANE Select | NP_003051.1:p.Asn367Asp | |
| NM_001308122.2:c.1171A>G | NP_001295051.1:p.Asn391Asp |