HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928930T>G , CM000684.2:g.43928930T>G | GRCh38 |
NC_000022.10:g.44324810T>G , CM000684.1:g.44324810T>G | GRCh37 |
NC_000022.9:g.42656143T>G | NCBI36 |
NG_008631.1:g.10192T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.486+41T>G MANE Select | ENSP00000216180.3:n.486+41T>G | |
ENST00000216180.7:c.486+41T>G | ENSP00000216180.3:n.486+41T>G | |
ENST00000406117.6:c.*118+41T>G | ENSP00000384668.2:n.*118+41T>G | |
ENST00000423180.2:c.474+41T>G | ENSP00000397987.2:n.474+41T>G | |
ENST00000478713.1:n.520+41T>G | ||
NM_025225.2:c.486+41T>G | NP_079501.2:n.486+41T>G | |
NM_025225.3:c.486+41T>G MANE Select | NP_079501.2:n.486+41T>G |