HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107704391T= , CM000669.2:g.107704391T= | GRCh38 |
NC_000007.13:g.107344836T= , CM000669.1:g.107344836T= | GRCh37 |
NC_000007.12:g.107132072T= | NCBI36 |
NG_008489.1:g.48757T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.2089+6T= MANE Select | ENSP00000494017.1:n.2089+6T= | |
ENST00000644846.1:c.745+2334T= | ||
ENST00000265715.7:c.2089+6T= | ENSP00000265715.3:n.2089+6T= | |
ENST00000492030.2:n.376+6T= | ||
NM_000441.1:c.2089+6T= | NP_000432.1:n.2089+6T= | |
XM_005250425.1:c.2089+6T= | XP_005250482.1:n.2089+6T= | |
XM_005250425.2:c.2089+6T= | XP_005250482.1:n.2089+6T= | |
XM_017012318.1:c.2011+6T= | XP_016867807.1:n.2011+6T= | |
NM_000441.2:c.2089+6T= MANE Select | NP_000432.1:n.2089+6T= |