HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647217A>G , CM000669.2:g.100647217A>G | GRCh38 |
NC_000007.13:g.100244840A>G , CM000669.1:g.100244840A>G | GRCh37 |
NC_000007.12:g.100082776A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.821+6T>C MANE Select | ENSP00000160382.5:n.821+6T>C | |
ENST00000160382.9:c.821+6T>C | ENSP00000160382.5:n.821+6T>C | |
ENST00000487125.1:n.357+6T>C | ||
NM_016188.4:c.821+6T>C | NP_057272.1:n.821+6T>C | |
XR_927476.1:n.928+6T>C | ||
NR_134539.1:n.928+6T>C | ||
NM_016188.5:c.821+6T>C MANE Select | NP_057272.1:n.821+6T>C | |
NR_134539.2:n.915+6T>C |