HGVS | Genome Assembly |
---|---|
NC_000012.12:g.128702082T>C , CM000674.2:g.128702082T>C | GRCh38 |
NC_000012.11:g.129186627T>C , CM000674.1:g.129186627T>C | GRCh37 |
NC_000012.10:g.127752580T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435159.3:c.2122-3008T>C MANE Select | ENSP00000410852.2:n.2122-3008T>C | |
ENST00000435159.2:c.2122-3008T>C | ENSP00000410852.2:n.2122-3008T>C | |
NM_001136103.2:c.2122-3008T>C | NP_001129575.2:n.2122-3008T>C | |
XM_011538998.1:c.2062-3008T>C | XP_011537300.1:n.2062-3008T>C | |
XM_011538998.2:c.2062-3008T>C | XP_011537300.1:n.2062-3008T>C | |
XR_001748922.1:n.2355-2570T>C | ||
NM_001136103.3:c.2122-3008T>C MANE Select | NP_001129575.2:n.2122-3008T>C | |
NM_001387058.1:c.2062-3008T>C | NP_001373987.1:n.2062-3008T>C |