HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27518370T>C , CM000664.2:g.27518370T>C | GRCh38 |
NC_000002.11:g.27741237T>C , CM000664.1:g.27741237T>C | GRCh37 |
NC_000002.10:g.27594741T>C | NCBI36 |
NG_028024.1:g.26532T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264717.7:c.1423-418T>C MANE Select | ENSP00000264717.2:n.1423-418T>C | |
ENST00000264717.6:c.1423-418T>C | ENSP00000264717.2:n.1423-418T>C | |
NM_001486.3:c.1423-418T>C | NP_001477.2:n.1423-418T>C | |
XM_011532761.1:c.1270-418T>C | XP_011531063.1:n.1270-418T>C | |
XM_011532762.1:c.853-418T>C | XP_011531064.1:n.853-418T>C | |
XM_017003796.1:c.853-418T>C | XP_016859285.1:n.853-418T>C | |
XM_017003797.1:c.853-418T>C | XP_016859286.1:n.853-418T>C | |
NM_001486.4:c.1423-418T>C MANE Select | NP_001477.2:n.1423-418T>C |