HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32115543A= , CM000668.2:g.32115543A= | GRCh38 |
NC_000006.11:g.32083320A= , CM000668.1:g.32083320A= | GRCh37 |
NC_000006.10:g.32191298A= | NCBI36 |
NG_033940.1:g.17698T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375203.8:c.*196T= MANE Select | ENSP00000364349.3:n.*196T= | |
ENST00000453203.2:c.*447T= | ENSP00000393419.2:n.*447T= | |
ENST00000375201.8:c.*196T= | ENSP00000364347.4:n.*196T= | |
ENST00000375203.7:c.*196T= | ENSP00000364349.3:n.*196T= | |
ENST00000494022.1:n.289+1161T= | ||
NM_001136153.1:c.*196T= | NP_001129625.1:n.*196T= | |
NM_004381.4:c.*196T= | NP_004372.3:n.*196T= | |
NM_004381.5:c.*196T= MANE Select | NP_004372.3:n.*196T= | |
NM_001136153.2:c.*196T= | NP_001129625.1:n.*196T= |