Linked Data
dbSNP Id:
rs370016019
ExAC:
4:40356427 A / G
gnomAD v2:
4-40356427-A-G
gnomAD v3:
4-40354410-A-G
gnomAD v4:
4-40354410-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354410A>G , CM000666.2:g.40354410A>G | GRCh38 |
| NC_000004.11:g.40356427A>G , CM000666.1:g.40356427A>G | GRCh37 |
| NC_000004.10:g.40051184A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310169.3:c.1330A>G MANE Select | ENSP00000312663.2:p.Lys444Glu | |
| ENST00000310169.2:c.1330A>G | ENSP00000312663.2:p.Lys444Glu | |
| NM_017581.3:c.1330A>G | NP_060051.2:p.Lys444Glu | |
| NM_017581.4:c.1330A>G MANE Select | NP_060051.2:p.Lys444Glu |