HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905378G>T , CM000676.2:g.50905378G>T | GRCh38 |
NC_000014.8:g.51372096G>T , CM000676.1:g.51372096G>T | GRCh37 |
NC_000014.7:g.50441846G>T | NCBI36 |
NG_012796.1:g.44153C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.*14C>A MANE Select | ENSP00000216392.7:n.*14C>A | |
ENST00000216392.7:c.*14C>A | ENSP00000216392.7:n.*14C>A | |
ENST00000532462.5:c.2379+2893C>A | ENSP00000431657.1:n.2379+2893C>A | |
ENST00000544180.6:c.*14C>A | ENSP00000443787.1:n.*14C>A | |
NM_001163940.1:c.*14C>A | NP_001157412.1:n.*14C>A | |
NM_002863.4:c.*14C>A | NP_002854.3:n.*14C>A | |
NM_002863.5:c.*14C>A MANE Select | NP_002854.3:n.*14C>A | |
NM_001163940.2:c.*14C>A | NP_001157412.1:n.*14C>A |