HGVS | Genome Assembly |
---|---|
NC_000013.11:g.33036378T>C , CM000675.2:g.33036378T>C | GRCh38 |
NC_000013.10:g.33610515T>C , CM000675.1:g.33610515T>C | GRCh37 |
NC_000013.9:g.32508515T>C | NCBI36 |
NG_011485.1:g.24945T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380099.4:c.820-17389T>C MANE Select | ENSP00000369442.3:n.820-17389T>C | |
ENST00000380099.3:c.820-17389T>C | ENSP00000369442.3:n.820-17389T>C | |
ENST00000487852.1:n.828-17389T>C | ||
NM_004795.3:c.820-17389T>C | NP_004786.2:n.820-17389T>C | |
XM_006719895.1:c.-102-17389T>C | XP_006719958.1:n.-102-17389T>C | |
XM_006719895.2:c.-102-17389T>C | XP_006719958.1:n.-102-17389T>C | |
NM_004795.4:c.820-17389T>C MANE Select | NP_004786.2:n.820-17389T>C |