HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38252939C>A , CM000677.2:g.38252939C>A | GRCh38 |
NC_000015.9:g.38545140C>A , CM000677.1:g.38545140C>A | GRCh37 |
NC_000015.8:g.36332432C>A | NCBI36 |
NG_008980.1:g.5089C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.-247C>A MANE Select | ENSP00000299084.4:n.-247C>A | |
ENST00000299084.8:c.-247C>A | ENSP00000299084.4:n.-247C>A | |
ENST00000561205.1:n.92C>A | ||
NM_152594.2:c.-247C>A | NP_689807.1:n.-247C>A | |
XM_005254202.2:c.-247C>A | XP_005254259.1:n.-247C>A | |
XM_005254203.3:c.-294C>A | XP_005254260.1:n.-294C>A | |
XM_005254202.3:c.-247C>A | XP_005254259.1:n.-247C>A | |
XR_001751484.1:n.87+628G>T | ||
NM_152594.3:c.-247C>A MANE Select | NP_689807.1:n.-247C>A |