HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957070A>C , CM000685.2:g.154957070A>C | GRCh38 |
NC_000023.10:g.154185345A>C , CM000685.1:g.154185345A>C | GRCh37 |
NC_000023.9:g.153838539A>C | NCBI36 |
NG_011403.1:g.70654T>G | |
NG_011403.2:g.70654T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1639T>G MANE Select | ENSP00000353393.4:p.Cys547Gly | |
ENST00000647125.1:c.*1515T>G | ENSP00000496062.1:n.*1515T>G | |
ENST00000360256.8:c.1639T>G | ENSP00000353393.4:p.Cys547Gly | |
NM_000132.3:c.1639T>G | NP_000123.1:p.Cys547Gly | |
XM_011531126.1:c.1534T>G | XP_011529428.1:p.Cys512Gly | |
NM_000132.4:c.1639T>G MANE Select | NP_000123.1:p.Cys547Gly |