HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96143283T>G , CM000664.2:g.96143283T>G | GRCh38 |
NC_000002.11:g.96809022T>G , CM000664.1:g.96809022T>G | GRCh37 |
NC_000002.10:g.96172749T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288943.5:c.*540A>C MANE Select | ENSP00000288943.4:n.*540A>C | |
ENST00000288943.4:c.*540A>C | ENSP00000288943.4:n.*540A>C | |
NM_004418.3:c.*540A>C | NP_004409.1:n.*540A>C | |
XM_017003546.1:c.*540A>C | XP_016859035.1:n.*540A>C | |
NM_004418.4:c.*540A>C MANE Select | NP_004409.1:n.*540A>C |