Linked Data
dbSNP Id:
rs753804082
ExAC:
5:131726546 C / A
gnomAD v2:
5-131726546-C-A
gnomAD v4:
5-132390854-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390854C>A , CM000667.2:g.132390854C>A | GRCh38 |
| NC_000005.9:g.131726546C>A , CM000667.1:g.131726546C>A | GRCh37 |
| NC_000005.8:g.131754445C>A | NCBI36 |
| NG_008982.1:g.26146C>A | |
| NG_008982.2:g.26151C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1058C>A | ENSP00000388838.2:p.Ala353Asp | |
| ENST00000435065.7:c.1289C>A | ENSP00000402760.2:p.Ala430Asp | |
| ENST00000448810.6:c.*69C>A | ENSP00000401860.2:n.*69C>A | |
| ENST00000685543.1:n.1358C>A | ||
| ENST00000686757.1:c.*381C>A | ENSP00000510721.1:n.*381C>A | |
| ENST00000687740.1:n.3902C>A | ||
| ENST00000688151.1:n.2527C>A | ||
| ENST00000689271.1:c.1064C>A | ENSP00000510797.1:p.Ala355Asp | |
| ENST00000690900.1:c.*381C>A | ENSP00000510703.1:n.*381C>A | |
| ENST00000692212.1:n.2829C>A | ||
| ENST00000692355.1:c.470C>A | ||
| ENST00000692413.1:c.1199C>A | ENSP00000509374.1:p.Ala400Asp | |
| ENST00000692825.1:c.1285C>A | ENSP00000509447.1:n.1285C>A | |
| ENST00000693308.1:c.1265C>A | ENSP00000509770.1:p.Ala422Asp | |
| ENST00000693763.1:n.2377C>A | ||
| ENST00000245407.8:c.1217C>A MANE Select | ENSP00000245407.3:p.Ala406Asp | |
| ENST00000245407.7:c.1217C>A | ENSP00000245407.3:p.Ala406Asp | |
| ENST00000435065.6:c.1289C>A | ENSP00000402760.2:p.Ala430Asp | |
| ENST00000447841.5:c.112-1579C>A | ||
| ENST00000448810.5:c.479C>A | ||
| ENST00000461013.5:n.8639C>A | ||
| ENST00000475308.1:n.1895C>A | ||
| ENST00000479605.5:n.320C>A | ||
| NM_001308122.1:c.1289C>A | NP_001295051.1:p.Ala430Asp | |
| NM_003060.3:c.1217C>A | NP_003051.1:p.Ala406Asp | |
| XM_011543590.1:c.599C>A | XP_011541892.1:p.Ala200Asp | |
| XR_427718.1:n.1577C>A | ||
| XR_948290.1:n.1394-1579C>A | ||
| XR_948291.1:n.1571C>A | ||
| XM_011543590.2:c.599C>A | XP_011541892.1:p.Ala200Asp | |
| XM_017009778.2:c.689C>A | XP_016865267.1:p.Ala230Asp | |
| XR_001742215.1:n.1472C>A | ||
| XR_001742216.1:n.1491C>A | ||
| XR_427718.2:n.1577C>A | ||
| XR_948290.2:n.1394-1579C>A | ||
| XR_948291.2:n.1571C>A | ||
| NM_003060.4:c.1217C>A MANE Select | NP_003051.1:p.Ala406Asp | |
| NM_001308122.2:c.1289C>A | NP_001295051.1:p.Ala430Asp |