HGVS | Genome Assembly |
---|---|
NC_000022.11:g.35729217T>G , CM000684.2:g.35729217T>G | GRCh38 |
NC_000022.10:g.36125264T>G , CM000684.1:g.36125264T>G | GRCh37 |
NC_000022.9:g.34455210T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249044.2:c.1309-137T>G MANE Select | ENSP00000249044.2:n.1309-137T>G | |
NM_030642.1:c.1309-137T>G MANE Select | NP_085145.1:n.1309-137T>G | |
XM_006724321.2:c.*7-137T>G | XP_006724384.1:n.*7-137T>G | |
XM_011530393.1:c.*7-137T>G | XP_011528695.1:n.*7-137T>G | |
XM_006724321.4:c.*7-137T>G | XP_006724384.1:n.*7-137T>G | |
XM_017028945.2:c.*7-137T>G | XP_016884434.1:n.*7-137T>G |