HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32115533G>T , CM000668.2:g.32115533G>T | GRCh38 |
NC_000006.11:g.32083310G>T , CM000668.1:g.32083310G>T | GRCh37 |
NC_000006.10:g.32191288G>T | NCBI36 |
NG_033940.1:g.17708C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375203.8:c.*206C>A MANE Select | ENSP00000364349.3:n.*206C>A | |
ENST00000453203.2:c.*457C>A | ENSP00000393419.2:n.*457C>A | |
ENST00000375201.8:c.*206C>A | ENSP00000364347.4:n.*206C>A | |
ENST00000375203.7:c.*206C>A | ENSP00000364349.3:n.*206C>A | |
ENST00000494022.1:n.289+1171C>A | ||
NM_001136153.1:c.*206C>A | NP_001129625.1:n.*206C>A | |
NM_004381.4:c.*206C>A | NP_004372.3:n.*206C>A | |
NM_004381.5:c.*206C>A MANE Select | NP_004372.3:n.*206C>A | |
NM_001136153.2:c.*206C>A | NP_001129625.1:n.*206C>A |