HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48368594A>G , CM000675.2:g.48368594A>G | GRCh38 |
NC_000013.10:g.48942730A>G , CM000675.1:g.48942730A>G | GRCh37 |
NC_000013.9:g.47840731A>G | NCBI36 |
NG_009009.1:g.69848A>G , LRG_517:g.69848A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1117A>G MANE Select | ENSP00000267163.4:p.Thr373Ala | |
ENST00000650461.1:c.1117A>G | ENSP00000497193.1:p.Thr373Ala | |
ENST00000267163.4:c.1117A>G | ENSP00000267163.4:p.Thr373Ala | |
NM_000321.2:c.1117A>G , LRG_517t1:c.1117A>G | NP_000312.2:p.Thr373Ala | |
XM_011535171.1:c.856A>G | XP_011533473.1:p.Thr286Ala | |
XM_011535171.2:c.856A>G | XP_011533473.1:p.Thr286Ala | |
XR_002957522.1:n.122-3618T>C | ||
NM_000321.3:c.1117A>G MANE Select | NP_000312.2:p.Thr373Ala |