HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527703T>C , CM000681.2:g.7527703T>C | GRCh38 |
NC_000019.9:g.7592589T>C , CM000681.1:g.7592589T>C | GRCh37 |
NC_000019.8:g.7498589T>C | NCBI36 |
NG_015806.1:g.10094T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.680+75T>C MANE Select | ENSP00000264079.5:n.680+75T>C | |
ENST00000264079.10:c.680+75T>C | ENSP00000264079.5:n.680+75T>C | |
ENST00000394321.9:n.835T>C | ||
ENST00000598406.1:n.576T>C | ||
ENST00000601003.1:c.572-161T>C | ENSP00000469074.1:n.572-161T>C | |
NM_020533.2:c.680+75T>C | NP_065394.1:n.680+75T>C | |
NM_020533.3:c.680+75T>C MANE Select | NP_065394.1:n.680+75T>C |