HGVS | Genome Assembly |
---|---|
NC_000023.11:g.139562124T>C , CM000685.2:g.139562124T>C | GRCh38 |
NC_000023.10:g.138644283T>C , CM000685.1:g.138644283T>C | GRCh37 |
NC_000023.9:g.138471949T>C | NCBI36 |
NG_007994.1:g.36389T>C , LRG_556:g.36389T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218099.7:c.*53T>C MANE Select | ENSP00000218099.2:n.*53T>C | |
ENST00000643157.1:n.1723+383T>C | ||
ENST00000218099.6:c.*53T>C | ENSP00000218099.2:n.*53T>C | |
NM_000133.3:c.*53T>C , LRG_556t1:c.*53T>C | NP_000124.1:n.*53T>C | |
NM_001313913.1:c.*53T>C | NP_001300842.1:n.*53T>C | |
XM_005262397.3:c.*53T>C | XP_005262454.1:n.*53T>C | |
XM_005262397.4:c.*53T>C | XP_005262454.1:n.*53T>C | |
NM_000133.4:c.*53T>C MANE Select | NP_000124.1:n.*53T>C | |
NM_001313913.2:c.*53T>C | NP_001300842.1:n.*53T>C |