HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215767045T>G , CM000663.2:g.215767045T>G | GRCh38 |
NC_000001.10:g.215940387T>G , CM000663.1:g.215940387T>G | GRCh37 |
NC_000001.9:g.214007010T>G | NCBI36 |
NG_009497.1:g.661352A>C | |
NG_009497.2:g.661404A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.10940-257A>C MANE Select | ENSP00000305941.3:n.10940-257A>C | |
ENST00000674083.1:c.10940-257A>C | ENSP00000501296.1:n.10940-257A>C | |
ENST00000307340.7:c.10940-257A>C | ENSP00000305941.3:n.10940-257A>C | |
NM_206933.2:c.10940-257A>C | NP_996816.2:n.10940-257A>C | |
NM_206933.3:c.10940-257A>C | NP_996816.2:n.10940-257A>C | |
NM_206933.4:c.10940-257A>C MANE Select | NP_996816.3:n.10940-257A>C |