HGVS | Genome Assembly |
---|---|
NC_000001.11:g.180993146A>G , CM000663.2:g.180993146A>G | GRCh38 |
NC_000001.10:g.180962282A>G , CM000663.1:g.180962282A>G | GRCh37 |
NC_000001.9:g.179228905A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258301.6:c.363+217T>C MANE Select | ENSP00000258301.5:n.363+217T>C | |
ENST00000258301.5:c.363+217T>C | ENSP00000258301.5:n.363+217T>C | |
ENST00000542060.5:c.60+217T>C | ENSP00000440188.1:n.60+217T>C | |
NM_001286210.1:c.60+217T>C | NP_001273139.1:n.60+217T>C | |
NM_005819.5:c.363+217T>C | NP_005810.1:n.363+217T>C | |
XM_011509058.1:c.363+217T>C | XP_011507360.1:n.363+217T>C | |
XM_011509059.1:c.60+217T>C | XP_011507361.1:n.60+217T>C | |
XM_017000007.1:c.60+217T>C | XP_016855496.1:n.60+217T>C | |
NM_005819.6:c.363+217T>C MANE Select | NP_005810.1:n.363+217T>C | |
NM_001286210.2:c.60+217T>C | NP_001273139.1:n.60+217T>C |