HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112830725C>G , CM000664.2:g.112830725C>G | GRCh38 |
NC_000002.11:g.113588302C>G , CM000664.1:g.113588302C>G | GRCh37 |
NC_000002.10:g.113304773C>G | NCBI36 |
NG_008851.1:g.11055G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.598-152G>C MANE Select | ENSP00000263341.2:n.598-152G>C | |
ENST00000263341.6:c.598-152G>C | ENSP00000263341.2:n.598-152G>C | |
ENST00000491056.5:n.1405-152G>C | ||
NM_000576.2:c.598-152G>C | NP_000567.1:n.598-152G>C | |
XM_006712496.1:c.364-152G>C | XP_006712559.1:n.364-152G>C | |
XM_017003988.2:c.505-152G>C | XP_016859477.1:n.505-152G>C | |
NM_000576.3:c.598-152G>C MANE Select | NP_000567.1:n.598-152G>C |