HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202840G>T , CM000668.2:g.32202840G>T | GRCh38 |
NC_000006.11:g.32170617G>T , CM000668.1:g.32170617G>T | GRCh37 |
NC_000006.10:g.32278595G>T | NCBI36 |
NG_028190.1:g.26228C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-241C>A MANE Select | ENSP00000364163.3:n.3232-241C>A | |
ENST00000474612.1:n.1077C>A | ||
NM_004557.3:c.3232-241C>A | NP_004548.3:n.3232-241C>A | |
NR_134949.1:n.3472+930C>A | ||
NR_134950.1:n.3370+930C>A | ||
NM_004557.4:c.3232-241C>A MANE Select | NP_004548.3:n.3232-241C>A | |
NR_134949.2:n.3472+930C>A | ||
NR_134950.2:n.3370+930C>A |