HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022412T>A , CM000685.2:g.155022412T>A | GRCh38 |
NC_000023.10:g.154250687T>A , CM000685.1:g.154250687T>A | GRCh37 |
NC_000023.9:g.153903881T>A | NCBI36 |
NG_011403.1:g.5312A>T | |
NG_011403.2:g.5312A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.141A>T MANE Select | ENSP00000353393.4:p.Ala47= | |
ENST00000647125.1:c.121+20A>T | ENSP00000496062.1:n.121+20A>T | |
ENST00000360256.8:c.141A>T | ENSP00000353393.4:p.Ala47= | |
ENST00000423959.5:c.38+4368A>T | ENSP00000409446.1:n.38+4368A>T | |
ENST00000453950.1:c.123A>T | ENSP00000389153.1:p.Ala41= | |
NM_000132.3:c.141A>T | NP_000123.1:p.Ala47= | |
XM_011531126.1:c.38+4368A>T | XP_011529428.1:n.38+4368A>T | |
NM_000132.4:c.141A>T MANE Select | NP_000123.1:p.Ala47= |