HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423068C>G , CM000669.2:g.94423068C>G | GRCh38 |
NC_000007.13:g.94052380C>G , CM000669.1:g.94052380C>G | GRCh37 |
NC_000007.12:g.93890316C>G | NCBI36 |
NG_007405.1:g.33508C>G , LRG_2:g.33508C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.2515C>G MANE Select | ENSP00000297268.6:p.Pro839Ala | |
ENST00000297268.10:c.2515C>G | ENSP00000297268.6:p.Pro839Ala | |
ENST00000481570.5:n.598C>G | ||
ENST00000497316.5:n.912C>G | ||
ENST00000620463.1:c.2509C>G | ENSP00000477719.1:p.Pro837Ala | |
NM_000089.3:c.2515C>G , LRG_2t1:c.2515C>G | NP_000080.2:p.Pro839Ala | |
NM_000089.4:c.2515C>G MANE Select | NP_000080.2:p.Pro839Ala |