Linked Data
dbSNP Id:
rs776279402
ExAC:
6:32411640 A / G
gnomAD v2:
6-32411640-A-G
gnomAD v3:
6-32443863-A-G
gnomAD v4:
6-32443863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443863A>G , CM000668.2:g.32443863A>G | GRCh38 |
| NC_000006.11:g.32411640A>G , CM000668.1:g.32411640A>G | GRCh37 |
| NC_000006.10:g.32519618A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.718A>G MANE Select | ENSP00000378786.2:p.Lys240Glu | |
| ENST00000374982.5:c.643A>G | ENSP00000364121.5:p.Lys215Glu | |
| ENST00000395388.6:c.718A>G | ENSP00000378786.2:p.Lys240Glu | |
| NM_019111.4:c.718A>G | NP_061984.2:p.Lys240Glu | |
| NM_019111.5:c.718A>G MANE Select | NP_061984.2:p.Lys240Glu |