HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364966C>G , CM000675.2:g.48364966C>G | GRCh38 |
NC_000013.10:g.48939102C>G , CM000675.1:g.48939102C>G | GRCh37 |
NC_000013.9:g.47837103C>G | NCBI36 |
NG_009009.1:g.66220C>G , LRG_517:g.66220C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.934C>G MANE Select | ENSP00000267163.4:p.Pro312Ala | |
ENST00000650461.1:c.934C>G | ENSP00000497193.1:p.Pro312Ala | |
ENST00000267163.4:c.934C>G | ENSP00000267163.4:p.Pro312Ala | |
NM_000321.2:c.934C>G , LRG_517t1:c.934C>G | NP_000312.2:p.Pro312Ala | |
XM_011535171.1:c.673C>G | XP_011533473.1:p.Pro225Ala | |
XM_011535171.2:c.673C>G | XP_011533473.1:p.Pro225Ala | |
XR_002957522.1:n.132G>C | ||
NM_000321.3:c.934C>G MANE Select | NP_000312.2:p.Pro312Ala |