HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17642297T>C , CM000673.2:g.17642297T>C | GRCh38 |
NC_000011.9:g.17663844T>C , CM000673.1:g.17663844T>C | GRCh37 |
NC_000011.8:g.17620420T>C | NCBI36 |
NG_033191.1:g.99925T>C | |
NG_033191.2:g.99925T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.8451+51T>C | ENSP00000382323.2:n.8451+51T>C | |
ENST00000399397.6:c.8415+51T>C MANE Select | ENSP00000382329.2:n.8415+51T>C | |
ENST00000399391.6:c.8451+51T>C | ENSP00000382323.2:n.8451+51T>C | |
ENST00000399397.5:c.8415+51T>C | ENSP00000382329.2:n.8415+51T>C | |
NM_001277269.1:c.8451+51T>C | NP_001264198.1:n.8451+51T>C | |
NM_001292063.1:c.8415+51T>C | NP_001278992.1:n.8415+51T>C | |
NM_001277269.2:c.8451+51T>C | NP_001264198.1:n.8451+51T>C | |
NM_001292063.2:c.8415+51T>C MANE Select | NP_001278992.1:n.8415+51T>C |