HGVS | Genome Assembly |
---|---|
NC_000018.10:g.12263374T>C , CM000680.2:g.12263374T>C | GRCh38 |
NC_000018.9:g.12263373T>C , CM000680.1:g.12263373T>C | GRCh37 |
NC_000018.8:g.12253373T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320477.10:c.183+405T>C MANE Select | ENSP00000320209.8:n.183+405T>C | |
ENST00000320477.9:c.183+405T>C | ENSP00000320209.8:n.183+405T>C | |
ENST00000520620.1:n.377+405T>C | ||
ENST00000521296.5:n.400+405T>C | ||
ENST00000522713.5:c.*116-226T>C | ENSP00000429238.1:n.*116-226T>C | |
NM_001279.3:c.183+405T>C | NP_001270.1:n.183+405T>C | |
NR_036468.1:n.741+405T>C | ||
XM_011525602.1:c.-381-226T>C | XP_011523904.1:n.-381-226T>C | |
NM_001318383.1:c.285+405T>C | NP_001305312.1:n.285+405T>C | |
NR_134607.1:n.742-226T>C | ||
NM_001279.4:c.183+405T>C MANE Select | NP_001270.1:n.183+405T>C | |
NM_001318383.2:c.285+405T>C | NP_001305312.1:n.285+405T>C | |
NR_134607.2:n.742-226T>C |