HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168291092G>C , CM000663.2:g.168291092G>C | GRCh38 |
NC_000001.10:g.168260330G>C , CM000663.1:g.168260330G>C | GRCh37 |
NC_000001.9:g.166526954G>C | NCBI36 |
NG_008244.1:g.15053G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367821.8:c.204-68G>C MANE Select | ENSP00000356795.3:n.204-68G>C | |
ENST00000367821.7:c.204-68G>C | ENSP00000356795.3:n.204-68G>C | |
NM_005149.2:c.204-68G>C | NP_005140.1:n.204-68G>C | |
NM_005149.3:c.204-68G>C MANE Select | NP_005140.1:n.204-68G>C |