HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154996980A>C , CM000685.2:g.154996980A>C | GRCh38 |
NC_000023.10:g.154225255A>C , CM000685.1:g.154225255A>C | GRCh37 |
NC_000023.9:g.153878449A>C | NCBI36 |
NG_011403.1:g.30744T>G | |
NG_011403.2:g.30744T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.381T>G MANE Select | ENSP00000353393.4:p.Ala127= | |
ENST00000647125.1:c.*167T>G | ENSP00000496062.1:n.*167T>G | |
ENST00000360256.8:c.381T>G | ENSP00000353393.4:p.Ala127= | |
ENST00000423959.5:c.276T>G | ENSP00000409446.1:p.Ala92= | |
ENST00000453950.1:c.363T>G | ENSP00000389153.1:p.Ala121= | |
NM_000132.3:c.381T>G | NP_000123.1:p.Ala127= | |
XM_011531126.1:c.276T>G | XP_011529428.1:p.Ala92= | |
NM_000132.4:c.381T>G MANE Select | NP_000123.1:p.Ala127= |