HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120737246T>G , CM000674.2:g.120737246T>G | GRCh38 |
NC_000012.11:g.121175049T>G , CM000674.1:g.121175049T>G | GRCh37 |
NC_000012.10:g.119659432T>G | NCBI36 |
NG_007991.1:g.16479T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.361-110T>G MANE Select | ENSP00000242592.4:n.361-110T>G | |
ENST00000242592.8:c.361-110T>G | ENSP00000242592.4:n.361-110T>G | |
ENST00000411593.2:c.361-110T>G | ENSP00000401045.2:n.361-110T>G | |
ENST00000539690.1:n.583T>G | ||
NM_000017.3:c.361-110T>G | NP_000008.1:n.361-110T>G | |
NM_001302554.1:c.361-110T>G | NP_001289483.1:n.361-110T>G | |
NM_000017.4:c.361-110T>G MANE Select | NP_000008.1:n.361-110T>G | |
NM_001302554.2:c.361-110T>G | NP_001289483.1:n.361-110T>G |