HGVS | Genome Assembly |
---|---|
NC_000006.12:g.83516737T= , CM000668.2:g.83516737T= | GRCh38 |
NC_000006.11:g.84226456T= , CM000668.1:g.84226456T= | GRCh37 |
NC_000006.10:g.84283175T= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369700.4:c.-21+4043T= MANE Select | ENSP00000358714.3:n.-21+4043T= | |
ENST00000369700.3:c.-21+4043T= | ENSP00000358714.3:n.-21+4043T= | |
NM_001170423.1:c.-126+4043T= | NP_001163894.1:n.-126+4043T= | |
NM_153362.2:c.-21+4043T= | NP_699193.2:n.-21+4043T= | |
NM_153362.3:c.-21+4043T= MANE Select | NP_699193.2:n.-21+4043T= | |
NM_001170423.2:c.-126+4043T= | NP_001163894.1:n.-126+4043T= |