Linked Data
ClinVar Variation Id:
360011
ClinVar RCV Id:
RCV000267692
RCV000302958
RCV001027470
RCV001095236
RCV001171985
RCV000558968
RCV004022050
RCV003922595
dbSNP Id:
rs192443850
ExAC:
7:30655580 A / G
gnomAD v2:
7-30655580-A-G
gnomAD v3:
7-30615964-A-G
gnomAD v4:
7-30615964-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30615964A>G , CM000669.2:g.30615964A>G | GRCh38 |
| NC_000007.13:g.30655580A>G , CM000669.1:g.30655580A>G | GRCh37 |
| NC_000007.12:g.30622105A>G | NCBI36 |
| NG_007942.1:g.26400A>G , LRG_243:g.26400A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1100A>G MANE Select | ENSP00000373918.3:p.Asn367Ser | |
| ENST00000444666.6:c.1100A>G | ENSP00000415447.2:p.Asn367Ser | |
| ENST00000470392.2:n.1190A>G | ||
| ENST00000478124.6:n.1163A>G | ||
| ENST00000485784.2:n.1179A>G | ||
| ENST00000674616.1:c.*814A>G | ENSP00000502408.1:n.*814A>G | |
| ENST00000674643.1:c.*200A>G | ENSP00000501636.1:n.*200A>G | |
| ENST00000674734.1:n.1596A>G | ||
| ENST00000674737.1:c.*438A>G | ENSP00000502464.1:n.*438A>G | |
| ENST00000674807.1:c.1100A>G | ENSP00000502814.1:p.Asn367Ser | |
| ENST00000674815.1:c.731A>G | ENSP00000502799.1:p.Asn244Ser | |
| ENST00000674851.1:c.731A>G | ENSP00000502451.1:p.Asn244Ser | |
| ENST00000674969.1:n.2973A>G | ||
| ENST00000675051.1:c.899A>G | ENSP00000502296.1:p.Asn300Ser | |
| ENST00000675529.1:c.*970A>G | ENSP00000501655.1:n.*970A>G | |
| ENST00000675587.1:n.1116A>G | ||
| ENST00000675651.1:c.1100A>G | ENSP00000502513.1:p.Asn367Ser | |
| ENST00000675693.1:c.932A>G | ENSP00000502174.1:p.Asn311Ser | |
| ENST00000675810.1:c.998A>G | ENSP00000502743.1:p.Asn333Ser | |
| ENST00000675859.1:c.1100A>G | ENSP00000502033.1:p.Asn367Ser | |
| ENST00000675863.1:n.1108A>G | ||
| ENST00000675886.1:n.7140A>G | ||
| ENST00000676088.1:c.*1042A>G | ENSP00000501884.1:n.*1042A>G | |
| ENST00000676140.1:c.*45A>G | ENSP00000502571.1:n.*45A>G | |
| ENST00000676164.1:c.*551A>G | ENSP00000501986.1:n.*551A>G | |
| ENST00000676210.1:c.*389A>G | ENSP00000502373.1:n.*389A>G | |
| ENST00000676259.1:c.*532A>G | ENSP00000501980.1:n.*532A>G | |
| ENST00000676403.1:c.1100A>G | ENSP00000502681.1:p.Asn367Ser | |
| ENST00000389266.7:c.1100A>G | ENSP00000373918.3:p.Asn367Ser | |
| ENST00000478124.5:n.1138A>G | ||
| ENST00000484093.1:n.99A>G | ||
| NM_001316772.1:c.938A>G | NP_001303701.1:p.Asn313Ser | |
| NM_002047.2:c.1100A>G , LRG_243t1:c.1100A>G | NP_002038.2:p.Asn367Ser | |
| NM_002047.3:c.1100A>G | NP_002038.2:p.Asn367Ser | |
| XM_006715686.1:c.731A>G | XP_006715749.1:p.Asn244Ser | |
| XM_006715686.2:c.731A>G | XP_006715749.1:p.Asn244Ser | |
| NM_002047.4:c.1100A>G MANE Select | NP_002038.2:p.Asn367Ser |