HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160009747A>G , CM000668.2:g.160009747A>G | GRCh38 |
NC_000006.11:g.160430779A>G , CM000668.1:g.160430779A>G | GRCh37 |
NC_000006.10:g.160350769A>G | NCBI36 |
NG_011785.3:g.45649A>G | |
NG_011785.4:g.45649A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356956.6:c.414+613A>G MANE Select | ENSP00000349437.1:n.414+613A>G | |
ENST00000676781.1:c.414+613A>G | ENSP00000504419.1:n.414+613A>G | |
ENST00000677704.1:c.414+613A>G | ENSP00000503314.1:n.414+613A>G | |
ENST00000356956.5:c.414+613A>G | ENSP00000349437.1:n.414+613A>G | |
NM_000876.2:c.414+613A>G | NP_000867.2:n.414+613A>G | |
XR_942419.1:n.429+613A>G | ||
NM_000876.3:c.414+613A>G | NP_000867.2:n.414+613A>G | |
NM_000876.4:c.414+613A>G MANE Select | NP_000867.3:n.414+613A>G |