HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533658G>C , CM000681.2:g.7533658G>C | GRCh38 |
NC_000019.9:g.7598544G>C , CM000681.1:g.7598544G>C | GRCh37 |
NC_000019.8:g.7504544G>C | NCBI36 |
NG_013374.1:g.4507G>C | |
NG_015806.1:g.16049G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1706+5G>C MANE Select | ENSP00000264079.5:n.1706+5G>C | |
ENST00000264079.10:c.1706+5G>C | ENSP00000264079.5:n.1706+5G>C | |
ENST00000394321.9:n.2021+5G>C | ||
ENST00000599334.1:c.434+5G>C | ||
ENST00000601870.1:c.59+5G>C | ||
ENST00000602227.1:n.260+5G>C | ||
NM_020533.2:c.1706+5G>C | NP_065394.1:n.1706+5G>C | |
NM_020533.3:c.1706+5G>C MANE Select | NP_065394.1:n.1706+5G>C |