HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905389A>T , CM000676.2:g.50905389A>T | GRCh38 |
NC_000014.8:g.51372107A>T , CM000676.1:g.51372107A>T | GRCh37 |
NC_000014.7:g.50441857A>T | NCBI36 |
NG_012796.1:g.44142T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.*3T>A MANE Select | ENSP00000216392.7:n.*3T>A | |
ENST00000216392.7:c.*3T>A | ENSP00000216392.7:n.*3T>A | |
ENST00000532462.5:c.2379+2882T>A | ENSP00000431657.1:n.2379+2882T>A | |
ENST00000544180.6:c.*3T>A | ENSP00000443787.1:n.*3T>A | |
NM_001163940.1:c.*3T>A | NP_001157412.1:n.*3T>A | |
NM_002863.4:c.*3T>A | NP_002854.3:n.*3T>A | |
NM_002863.5:c.*3T>A MANE Select | NP_002854.3:n.*3T>A | |
NM_001163940.2:c.*3T>A | NP_001157412.1:n.*3T>A |