Linked Data
ClinVar Variation Id:
423475
dbSNP Id:
rs774283805
ExAC:
7:30651810 G / C
gnomAD v2:
7-30651810-G-C
gnomAD v4:
7-30612194-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612194G>C , CM000669.2:g.30612194G>C | GRCh38 |
| NC_000007.13:g.30651810G>C , CM000669.1:g.30651810G>C | GRCh37 |
| NC_000007.12:g.30618335G>C | NCBI36 |
| NG_007942.1:g.22630G>C , LRG_243:g.22630G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.980G>C MANE Select | ENSP00000373918.3:p.Gly327Ala | |
| ENST00000444666.6:c.980G>C | ENSP00000415447.2:p.Gly327Ala | |
| ENST00000470392.2:n.1070G>C | ||
| ENST00000478124.6:n.1043G>C | ||
| ENST00000485784.2:n.1059G>C | ||
| ENST00000674616.1:c.*694G>C | ENSP00000502408.1:n.*694G>C | |
| ENST00000674643.1:c.980G>C | ENSP00000501636.1:p.Gly327Ala | |
| ENST00000674734.1:n.1476G>C | ||
| ENST00000674737.1:c.*318G>C | ENSP00000502464.1:n.*318G>C | |
| ENST00000674807.1:c.980G>C | ENSP00000502814.1:p.Gly327Ala | |
| ENST00000674815.1:c.611G>C | ENSP00000502799.1:p.Gly204Ala | |
| ENST00000674851.1:c.611G>C | ENSP00000502451.1:p.Gly204Ala | |
| ENST00000674969.1:n.2853G>C | ||
| ENST00000675051.1:c.779G>C | ENSP00000502296.1:p.Gly260Ala | |
| ENST00000675529.1:c.*850G>C | ENSP00000501655.1:n.*850G>C | |
| ENST00000675587.1:n.996G>C | ||
| ENST00000675651.1:c.980G>C | ENSP00000502513.1:p.Gly327Ala | |
| ENST00000675693.1:c.812G>C | ENSP00000502174.1:p.Gly271Ala | |
| ENST00000675810.1:c.878G>C | ENSP00000502743.1:p.Gly293Ala | |
| ENST00000675859.1:c.980G>C | ENSP00000502033.1:p.Gly327Ala | |
| ENST00000675863.1:n.988G>C | ||
| ENST00000675886.1:n.7020G>C | ||
| ENST00000676088.1:c.*922G>C | ENSP00000501884.1:n.*922G>C | |
| ENST00000676140.1:c.980G>C | ENSP00000502571.1:p.Gly327Ala | |
| ENST00000676164.1:c.*431G>C | ENSP00000501986.1:n.*431G>C | |
| ENST00000676210.1:c.*269G>C | ENSP00000502373.1:n.*269G>C | |
| ENST00000676259.1:c.*412G>C | ENSP00000501980.1:n.*412G>C | |
| ENST00000676403.1:c.980G>C | ENSP00000502681.1:p.Gly327Ala | |
| ENST00000389266.7:c.980G>C | ENSP00000373918.3:p.Gly327Ala | |
| ENST00000478124.5:n.1018G>C | ||
| NM_001316772.1:c.818G>C | NP_001303701.1:p.Gly273Ala | |
| NM_002047.2:c.980G>C , LRG_243t1:c.980G>C | NP_002038.2:p.Gly327Ala | |
| NM_002047.3:c.980G>C | NP_002038.2:p.Gly327Ala | |
| XM_006715686.1:c.611G>C | XP_006715749.1:p.Gly204Ala | |
| XM_006715686.2:c.611G>C | XP_006715749.1:p.Gly204Ala | |
| NM_002047.4:c.980G>C MANE Select | NP_002038.2:p.Gly327Ala |