HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164222C>G , CM000666.2:g.119164222C>G | GRCh38 |
NC_000004.11:g.120085377C>G , CM000666.1:g.120085377C>G | GRCh37 |
NC_000004.10:g.120304825C>G | NCBI36 |
NG_029747.1:g.33439C>G , LRG_396:g.33439C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307128.6:c.388C>G MANE Select | ENSP00000306997.6:p.Pro130Ala | |
ENST00000307128.5:c.388C>G | ENSP00000306997.5:p.Pro130Ala | |
NM_016599.4:c.388C>G , LRG_396t1:c.388C>G | NP_057683.1:p.Pro130Ala | |
XM_006714234.2:c.388C>G | XP_006714297.1:p.Pro130Ala | |
XM_006714234.4:c.388C>G | XP_006714297.1:p.Pro130Ala | |
NM_016599.5:c.388C>G MANE Select | NP_057683.1:p.Pro130Ala |