HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96143574A>G , CM000664.2:g.96143574A>G | GRCh38 |
NC_000002.11:g.96809313A>G , CM000664.1:g.96809313A>G | GRCh37 |
NC_000002.10:g.96173040A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288943.5:c.*249T>C MANE Select | ENSP00000288943.4:n.*249T>C | |
ENST00000288943.4:c.*249T>C | ENSP00000288943.4:n.*249T>C | |
NM_004418.3:c.*249T>C | NP_004409.1:n.*249T>C | |
XM_017003546.1:c.*249T>C | XP_016859035.1:n.*249T>C | |
NM_004418.4:c.*249T>C MANE Select | NP_004409.1:n.*249T>C |