HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38252964G>T , CM000677.2:g.38252964G>T | GRCh38 |
NC_000015.9:g.38545165G>T , CM000677.1:g.38545165G>T | GRCh37 |
NC_000015.8:g.36332457G>T | NCBI36 |
NG_008980.1:g.5114G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.-222G>T MANE Select | ENSP00000299084.4:n.-222G>T | |
ENST00000299084.8:c.-222G>T | ENSP00000299084.4:n.-222G>T | |
ENST00000561205.1:n.117G>T | ||
NM_152594.2:c.-222G>T | NP_689807.1:n.-222G>T | |
XM_005254202.2:c.-222G>T | XP_005254259.1:n.-222G>T | |
XM_005254203.3:c.-269G>T | XP_005254260.1:n.-269G>T | |
XM_005254202.3:c.-222G>T | XP_005254259.1:n.-222G>T | |
XR_001751484.1:n.87+603C>A | ||
NM_152594.3:c.-222G>T MANE Select | NP_689807.1:n.-222G>T |