Linked Data
dbSNP Id:
rs754506497
ExAC:
5:131726453 A / G
gnomAD v2:
5-131726453-A-G
gnomAD v4:
5-132390761-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390761A>G , CM000667.2:g.132390761A>G | GRCh38 |
| NC_000005.9:g.131726453A>G , CM000667.1:g.131726453A>G | GRCh37 |
| NC_000005.8:g.131754352A>G | NCBI36 |
| NG_008982.1:g.26053A>G | |
| NG_008982.2:g.26058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.965A>G | ENSP00000388838.2:p.Asn322Ser | |
| ENST00000435065.7:c.1196A>G | ENSP00000402760.2:p.Asn399Ser | |
| ENST00000448810.6:c.1053-15A>G | ENSP00000401860.2:n.1053-15A>G | |
| ENST00000685543.1:n.1265A>G | ||
| ENST00000686757.1:c.*288A>G | ENSP00000510721.1:n.*288A>G | |
| ENST00000687740.1:n.3809A>G | ||
| ENST00000688151.1:n.2434A>G | ||
| ENST00000689271.1:c.971A>G | ENSP00000510797.1:p.Asn324Ser | |
| ENST00000690900.1:c.*288A>G | ENSP00000510703.1:n.*288A>G | |
| ENST00000692212.1:n.2736A>G | ||
| ENST00000692355.1:c.377A>G | ||
| ENST00000692413.1:c.1106A>G | ENSP00000509374.1:p.Asn369Ser | |
| ENST00000692825.1:c.1192A>G | ENSP00000509447.1:n.1192A>G | |
| ENST00000693308.1:c.1172A>G | ENSP00000509770.1:p.Asn391Ser | |
| ENST00000693763.1:n.2284A>G | ||
| ENST00000245407.8:c.1124A>G MANE Select | ENSP00000245407.3:p.Asn375Ser | |
| ENST00000245407.7:c.1124A>G | ENSP00000245407.3:p.Asn375Ser | |
| ENST00000435065.6:c.1196A>G | ENSP00000402760.2:p.Asn399Ser | |
| ENST00000447841.5:c.112-1672A>G | ||
| ENST00000448810.5:c.401-15A>G | ||
| ENST00000461013.5:n.8546A>G | ||
| ENST00000475308.1:n.1802A>G | ||
| ENST00000479605.5:n.227A>G | ||
| NM_001308122.1:c.1196A>G | NP_001295051.1:p.Asn399Ser | |
| NM_003060.3:c.1124A>G | NP_003051.1:p.Asn375Ser | |
| XM_011543590.1:c.506A>G | XP_011541892.1:p.Asn169Ser | |
| XR_427718.1:n.1484A>G | ||
| XR_948290.1:n.1394-1672A>G | ||
| XR_948291.1:n.1478A>G | ||
| XM_011543590.2:c.506A>G | XP_011541892.1:p.Asn169Ser | |
| XM_017009778.2:c.596A>G | XP_016865267.1:p.Asn199Ser | |
| XR_001742215.1:n.1394-15A>G | ||
| XR_001742216.1:n.1413-15A>G | ||
| XR_427718.2:n.1484A>G | ||
| XR_948290.2:n.1394-1672A>G | ||
| XR_948291.2:n.1478A>G | ||
| NM_003060.4:c.1124A>G MANE Select | NP_003051.1:p.Asn375Ser | |
| NM_001308122.2:c.1196A>G | NP_001295051.1:p.Asn399Ser |