HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102866525A>T , CM000674.2:g.102866525A>T | GRCh38 |
NC_000012.11:g.103260303A>T , CM000674.1:g.103260303A>T | GRCh37 |
NC_000012.10:g.101784433A>T | NCBI36 |
NG_008690.1:g.56078T>A | |
NG_008690.2:g.96886T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.509+71T>A MANE Select | ENSP00000448059.1:n.509+71T>A | |
ENST00000307000.7:c.494+71T>A | ENSP00000303500.2:n.494+71T>A | |
ENST00000549111.5:n.605+71T>A | ||
ENST00000551988.5:n.530+10937T>A | ||
ENST00000553106.5:c.509+71T>A | ENSP00000448059.1:n.509+71T>A | |
NM_000277.1:c.509+71T>A | NP_000268.1:n.509+71T>A | |
XM_011538422.1:c.509+71T>A | XP_011536724.1:n.509+71T>A | |
NM_000277.2:c.509+71T>A | NP_000268.1:n.509+71T>A | |
NM_001354304.1:c.509+71T>A | NP_001341233.1:n.509+71T>A | |
XM_017019370.2:c.509+71T>A | XP_016874859.1:n.509+71T>A | |
NM_000277.3:c.509+71T>A MANE Select | NP_000268.1:n.509+71T>A | |
NM_001354304.2:c.509+71T>A | NP_001341233.1:n.509+71T>A |