Linked Data
ClinVar Variation Id:
1424569
ClinVar RCV Id:
RCV001957205
dbSNP Id:
rs727504638
gnomAD v4:
1-216247166-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216247166C>G , CM000663.2:g.216247166C>G | GRCh38 |
| NC_000001.10:g.216420508C>G , CM000663.1:g.216420508C>G | GRCh37 |
| NC_000001.9:g.214487131C>G | NCBI36 |
| NG_009497.1:g.181231G>C | |
| NG_009497.2:g.181283G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2228G>C MANE Select | ENSP00000305941.3:p.Gly743Ala | |
| ENST00000674083.1:c.2228G>C | ENSP00000501296.1:p.Gly743Ala | |
| ENST00000307340.7:c.2228G>C | ENSP00000305941.3:p.Gly743Ala | |
| ENST00000366942.3:c.2228G>C | ENSP00000355909.3:p.Gly743Ala | |
| NM_007123.5:c.2228G>C | NP_009054.5:p.Gly743Ala | |
| NM_206933.2:c.2228G>C | NP_996816.2:p.Gly743Ala | |
| NM_206933.3:c.2228G>C | NP_996816.2:p.Gly743Ala | |
| NM_007123.6:c.2228G>C | NP_009054.6:p.Gly743Ala | |
| NM_206933.4:c.2228G>C MANE Select | NP_996816.3:p.Gly743Ala |