Linked Data
dbSNP Id:
rs1560218471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539498T>C , CM000665.2:g.186539498T>C | GRCh38 |
| NC_000003.11:g.186257287T>C , CM000665.1:g.186257287T>C | GRCh37 |
| NC_000003.10:g.187739981T>C | NCBI36 |
| NG_009829.1:g.9881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.121A>G MANE Select | ENSP00000312099.5:p.Lys41Glu | |
| ENST00000307944.5:c.121A>G | ENSP00000312099.5:p.Lys41Glu | |
| ENST00000392499.6:c.121A>G | ENSP00000376287.2:p.Lys41Glu | |
| ENST00000460288.1:n.1023A>G | ||
| NM_017541.2:c.121A>G | NP_060011.1:p.Lys41Glu | |
| NM_017541.3:c.121A>G | NP_060011.1:p.Lys41Glu | |
| NM_017541.4:c.121A>G MANE Select | NP_060011.1:p.Lys41Glu |