Linked Data
ClinVar Variation Id:
9204
dbSNP Id:
rs137852643
gnomAD v2:
7-30649345-G-C
gnomAD v4:
7-30609729-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609729G>C , CM000669.2:g.30609729G>C | GRCh38 |
| NC_000007.13:g.30649345G>C , CM000669.1:g.30649345G>C | GRCh37 |
| NC_000007.12:g.30615870G>C | NCBI36 |
| NG_007942.1:g.20165G>C , LRG_243:g.20165G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.880G>C MANE Select | ENSP00000373918.3:p.Gly294Arg | |
| ENST00000444666.6:c.880G>C | ENSP00000415447.2:p.Gly294Arg | |
| ENST00000470392.2:n.970G>C | ||
| ENST00000478124.6:n.943G>C | ||
| ENST00000485784.2:n.959G>C | ||
| ENST00000674616.1:c.*594G>C | ENSP00000502408.1:n.*594G>C | |
| ENST00000674643.1:c.880G>C | ENSP00000501636.1:p.Gly294Arg | |
| ENST00000674734.1:n.1376G>C | ||
| ENST00000674737.1:c.*218G>C | ENSP00000502464.1:n.*218G>C | |
| ENST00000674807.1:c.880G>C | ENSP00000502814.1:p.Gly294Arg | |
| ENST00000674815.1:c.511G>C | ENSP00000502799.1:p.Gly171Arg | |
| ENST00000674851.1:c.511G>C | ENSP00000502451.1:p.Gly171Arg | |
| ENST00000674969.1:n.2753G>C | ||
| ENST00000675051.1:c.679G>C | ENSP00000502296.1:p.Gly227Arg | |
| ENST00000675529.1:c.*750G>C | ENSP00000501655.1:n.*750G>C | |
| ENST00000675587.1:n.896G>C | ||
| ENST00000675651.1:c.880G>C | ENSP00000502513.1:p.Gly294Arg | |
| ENST00000675693.1:c.712G>C | ENSP00000502174.1:p.Gly238Arg | |
| ENST00000675810.1:c.778G>C | ENSP00000502743.1:p.Gly260Arg | |
| ENST00000675859.1:c.880G>C | ENSP00000502033.1:p.Gly294Arg | |
| ENST00000675863.1:n.888G>C | ||
| ENST00000675886.1:n.6920G>C | ||
| ENST00000676088.1:c.*822G>C | ENSP00000501884.1:n.*822G>C | |
| ENST00000676140.1:c.880G>C | ENSP00000502571.1:p.Gly294Arg | |
| ENST00000676164.1:c.*331G>C | ENSP00000501986.1:n.*331G>C | |
| ENST00000676210.1:c.*169G>C | ENSP00000502373.1:n.*169G>C | |
| ENST00000676259.1:c.*312G>C | ENSP00000501980.1:n.*312G>C | |
| ENST00000676403.1:c.880G>C | ENSP00000502681.1:p.Gly294Arg | |
| ENST00000389266.7:c.880G>C | ENSP00000373918.3:p.Gly294Arg | |
| ENST00000478124.5:n.918G>C | ||
| NM_001316772.1:c.718G>C | NP_001303701.1:p.Gly240Arg | |
| NM_002047.2:c.880G>C , LRG_243t1:c.880G>C | NP_002038.2:p.Gly294Arg | |
| NM_002047.3:c.880G>C | NP_002038.2:p.Gly294Arg | |
| XM_006715686.1:c.511G>C | XP_006715749.1:p.Gly171Arg | |
| XM_006715686.2:c.511G>C | XP_006715749.1:p.Gly171Arg | |
| NM_002047.4:c.880G>C MANE Select | NP_002038.2:p.Gly294Arg |