Linked Data
dbSNP Id:
rs782703604
ExAC:
12:7083600 C / G
gnomAD v2:
12-7083600-C-G
gnomAD v4:
12-6974438-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974438C>G , CM000674.2:g.6974438C>G | GRCh38 |
| NC_000012.11:g.7083600C>G , CM000674.1:g.7083600C>G | GRCh37 |
| NC_000012.10:g.6953861C>G | NCBI36 |
| NG_021408.1:g.8658C>G | |
| NG_021408.2:g.8658C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599672.6:c.268C>G MANE Select | ENSP00000470560.1:p.Gln90Glu | |
| ENST00000261406.7:c.250C>G | ENSP00000476966.2:p.Gln84Glu | |
| ENST00000539196.2:c.131C>G | ||
| ENST00000599672.5:c.268C>G | ENSP00000470560.1:p.Gln90Glu | |
| ENST00000607161.5:c.271C>G | ENSP00000480420.1:p.Gln91Glu | |
| ENST00000611981.1:n.279C>G | ||
| ENST00000620255.1:n.257C>G | ||
| NM_006331.7:c.268C>G | NP_006322.4:p.Gln90Glu | |
| XM_011520907.1:c.268C>G | XP_011519209.1:p.Gln90Glu | |
| NM_001320049.1:c.268C>G | NP_001306978.1:p.Gln90Glu | |
| NR_135131.1:n.411C>G | ||
| NM_006331.8:c.268C>G MANE Select | NP_006322.4:p.Gln90Glu | |
| NM_001320049.2:c.268C>G | NP_001306978.1:p.Gln90Glu | |
| NR_135131.2:n.279C>G |