HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119044C>A , CM000667.2:g.111119044C>A | GRCh38 |
NC_000005.9:g.110454742C>A , CM000667.1:g.110454742C>A | GRCh37 |
NC_000005.8:g.110482641C>A | NCBI36 |
NG_008979.1:g.31873C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1828C>A MANE Select | ENSP00000424628.3:p.Pro610Thr | |
ENST00000506538.6:c.1996C>A | ENSP00000423067.2:p.Pro666Thr | |
ENST00000513710.3:c.1828C>A | ENSP00000424628.3:p.Pro610Thr | |
ENST00000612402.4:c.1996C>A | ENSP00000479950.1:p.Pro666Thr | |
NM_139281.2:c.1996C>A | NP_644810.1:p.Pro666Thr | |
XM_011543163.1:c.1996C>A | XP_011541465.1:p.Pro666Thr | |
NM_139281.3:c.1828C>A MANE Select | NP_644810.2:p.Pro610Thr |