HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35842258G>T , CM000681.2:g.35842258G>T | GRCh38 |
NC_000019.9:g.36333160G>T , CM000681.1:g.36333160G>T | GRCh37 |
NC_000019.8:g.41025000G>T | NCBI36 |
NG_013356.2:g.32030C>A , LRG_693:g.32030C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.2529C>A MANE Select | ENSP00000368190.4:p.Pro843= | |
ENST00000353632.6:c.2529C>A | ENSP00000343634.5:p.Pro843= | |
ENST00000378910.9:c.2529C>A | ENSP00000368190.4:p.Pro843= | |
NM_004646.3:c.2529C>A , LRG_693t1:c.2529C>A | NP_004637.1:p.Pro843= | |
NM_004646.4:c.2529C>A MANE Select | NP_004637.1:p.Pro843= |