HGVS | Genome Assembly |
---|---|
NC_000006.12:g.83517164T>C , CM000668.2:g.83517164T>C | GRCh38 |
NC_000006.11:g.84226883T>C , CM000668.1:g.84226883T>C | GRCh37 |
NC_000006.10:g.84283602T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369700.4:c.-21+4470T>C MANE Select | ENSP00000358714.3:n.-21+4470T>C | |
ENST00000369700.3:c.-21+4470T>C | ENSP00000358714.3:n.-21+4470T>C | |
NM_001170423.1:c.-125-4371T>C | NP_001163894.1:n.-125-4371T>C | |
NM_153362.2:c.-21+4470T>C | NP_699193.2:n.-21+4470T>C | |
NM_153362.3:c.-21+4470T>C MANE Select | NP_699193.2:n.-21+4470T>C | |
NM_001170423.2:c.-125-4371T>C | NP_001163894.1:n.-125-4371T>C |