HGVS | Genome Assembly |
---|---|
NC_000004.12:g.168165424G>C , CM000666.2:g.168165424G>C | GRCh38 |
NC_000004.11:g.169086575G>C , CM000666.1:g.169086575G>C | GRCh37 |
NC_000004.10:g.169323150G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359299.8:c.480+98G>C MANE Select | ENSP00000352248.3:n.480+98G>C | |
ENST00000359299.7:c.480+98G>C | ENSP00000352248.3:n.480+98G>C | |
ENST00000503003.1:n.86+98G>C | ||
ENST00000507278.5:n.143+98G>C | ||
ENST00000617524.1:c.477+98G>C | ENSP00000483710.1:n.477+98G>C | |
NM_007193.4:c.480+98G>C | NP_009124.2:n.480+98G>C | |
XM_011531571.1:c.540+98G>C | XP_011529873.1:n.540+98G>C | |
XM_011531571.2:c.540+98G>C | XP_011529873.1:n.540+98G>C | |
NM_007193.5:c.480+98G>C MANE Select | NP_009124.2:n.480+98G>C |