HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039101A>G , CM000663.2:g.197039101A>G | GRCh38 |
NC_000001.10:g.197008231A>G , CM000663.1:g.197008231A>G | GRCh37 |
NC_000001.9:g.195274854A>G | NCBI36 |
NG_012065.1:g.33167T>C , LRG_550:g.33167T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*277T>C MANE Select | ENSP00000356382.2:n.*277T>C | |
ENST00000649282.1:c.1018T>C | ENSP00000497116.1:n.1018T>C | |
XM_011509283.2:c.*1198T>C | XP_011507585.1:n.*1198T>C | |
XM_011509284.2:c.*1198T>C | XP_011507586.1:n.*1198T>C | |
XM_011509286.2:c.*1198T>C | XP_011507588.1:n.*1198T>C | |
NM_001994.3:c.*277T>C MANE Select | NP_001985.2:n.*277T>C |