HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145177G>T , CM000670.2:g.96145177G>T | GRCh38 |
NC_000008.10:g.97157405G>T , CM000670.1:g.97157405G>T | GRCh37 |
NC_000008.9:g.97226581G>T | NCBI36 |
NG_008981.1:g.20616C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.754C>A MANE Select | ENSP00000287020.4:p.Pro252Thr | |
ENST00000287020.6:c.754C>A | ENSP00000287020.4:p.Pro252Thr | |
ENST00000620978.1:c.707-15C>A | ENSP00000480170.1:n.707-15C>A | |
ENST00000621429.1:c.754C>A | ENSP00000483711.1:p.Pro252Thr | |
NM_001001557.2:c.754C>A | NP_001001557.1:p.Pro252Thr | |
XM_011517030.1:c.355C>A | XP_011515332.1:p.Pro119Thr | |
NM_001001557.3:c.754C>A | NP_001001557.1:p.Pro252Thr | |
NM_001001557.4:c.754C>A MANE Select | NP_001001557.1:p.Pro252Thr |