Linked Data
dbSNP Id:
rs1256728929
gnomAD v2:
7-5642962-A-G
gnomAD v3:
7-5603331-A-G
gnomAD v4:
7-5603331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603331A>G , CM000669.2:g.5603331A>G | GRCh38 |
| NC_000007.13:g.5642962A>G , CM000669.1:g.5642962A>G | GRCh37 |
| NC_000007.12:g.5609488A>G | NCBI36 |
| NG_030004.1:g.15527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.907A>G MANE Select | ENSP00000371798.3:p.Lys303Glu | |
| ENST00000382361.7:c.907A>G | ENSP00000371798.3:p.Lys303Glu | |
| ENST00000405801.2:c.73A>G | ENSP00000383982.2:p.Lys25Glu | |
| ENST00000444748.5:c.73A>G | ENSP00000404506.1:p.Lys25Glu | |
| ENST00000447103.5:c.73A>G | ENSP00000409967.1:p.Lys25Glu | |
| ENST00000473330.1:n.460A>G | ||
| NM_003088.3:c.907A>G | NP_003079.1:p.Lys303Glu | |
| NM_003088.4:c.907A>G MANE Select | NP_003079.1:p.Lys303Glu |