Linked Data
dbSNP Id:
rs540751010
ExAC:
17:39739536 C / G
gnomAD v2:
17-39739536-C-G
gnomAD v3:
17-41583284-C-G
gnomAD v4:
17-41583284-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583284C>G , CM000679.2:g.41583284C>G | GRCh38 |
| NC_000017.10:g.39739536C>G , CM000679.1:g.39739536C>G | GRCh37 |
| NC_000017.9:g.36993062C>G | NCBI36 |
| NG_008624.1:g.8612G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1225G>C MANE Select | ENSP00000167586.6:p.Glu409Gln | |
| ENST00000167586.6:c.1225G>C | ENSP00000167586.6:p.Glu409Gln | |
| ENST00000441550.2:n.172G>C | ||
| ENST00000476662.1:n.675G>C | ||
| NM_000526.4:c.1225G>C | NP_000517.2:p.Glu409Gln | |
| NM_000526.5:c.1225G>C MANE Select | NP_000517.3:p.Glu409Gln |