Linked Data
dbSNP Id:
rs767401239
ExAC:
14:50088590 A / G
gnomAD v2:
14-50088590-A-G
gnomAD v4:
14-49621872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621872A>G , CM000676.2:g.49621872A>G | GRCh38 |
| NC_000014.8:g.50088590A>G , CM000676.1:g.50088590A>G | GRCh37 |
| NC_000014.7:g.49158340A>G | NCBI36 |
| NG_008920.1:g.6102A>G | |
| NG_033054.1:g.3760T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.604A>G MANE Select | ENSP00000307423.2:p.Lys202Glu | |
| ENST00000305386.3:c.604A>G | ENSP00000307423.2:p.Lys202Glu | |
| NM_002408.3:c.604A>G | NP_002399.1:p.Lys202Glu | |
| NM_002408.4:c.604A>G MANE Select | NP_002399.1:p.Lys202Glu |