HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039096A>G , CM000663.2:g.197039096A>G | GRCh38 |
NC_000001.10:g.197008226A>G , CM000663.1:g.197008226A>G | GRCh37 |
NC_000001.9:g.195274849A>G | NCBI36 |
NG_012065.1:g.33172T>C , LRG_550:g.33172T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*282T>C MANE Select | ENSP00000356382.2:n.*282T>C | |
ENST00000649282.1:c.1023T>C | ENSP00000497116.1:n.1023T>C | |
XM_011509283.2:c.*1203T>C | XP_011507585.1:n.*1203T>C | |
XM_011509284.2:c.*1203T>C | XP_011507586.1:n.*1203T>C | |
XM_011509286.2:c.*1203T>C | XP_011507588.1:n.*1203T>C | |
NM_001994.3:c.*282T>C MANE Select | NP_001985.2:n.*282T>C |