HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48364968A>G , CM000675.2:g.48364968A>G | GRCh38 |
NC_000013.10:g.48939104A>G , CM000675.1:g.48939104A>G | GRCh37 |
NC_000013.9:g.47837105A>G | NCBI36 |
NG_009009.1:g.66222A>G , LRG_517:g.66222A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.936A>G MANE Select | ENSP00000267163.4:p.Pro312= | |
ENST00000650461.1:c.936A>G | ENSP00000497193.1:p.Pro312= | |
ENST00000267163.4:c.936A>G | ENSP00000267163.4:p.Pro312= | |
NM_000321.2:c.936A>G , LRG_517t1:c.936A>G | NP_000312.2:p.Pro312= | |
XM_011535171.1:c.675A>G | XP_011533473.1:p.Pro225= | |
XM_011535171.2:c.675A>G | XP_011533473.1:p.Pro225= | |
XR_002957522.1:n.130T>C | ||
NM_000321.3:c.936A>G MANE Select | NP_000312.2:p.Pro312= |