HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32202741C>G , CM000668.2:g.32202741C>G | GRCh38 |
NC_000006.11:g.32170518C>G , CM000668.1:g.32170518C>G | GRCh37 |
NC_000006.10:g.32278496C>G | NCBI36 |
NG_028190.1:g.26327G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.3232-142G>C MANE Select | ENSP00000364163.3:n.3232-142G>C | |
ENST00000474612.1:n.1176G>C | ||
NM_004557.3:c.3232-142G>C | NP_004548.3:n.3232-142G>C | |
NR_134949.1:n.3472+1029G>C | ||
NR_134950.1:n.3370+1029G>C | ||
NM_004557.4:c.3232-142G>C MANE Select | NP_004548.3:n.3232-142G>C | |
NR_134949.2:n.3472+1029G>C | ||
NR_134950.2:n.3370+1029G>C |