HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527698A>C , CM000681.2:g.7527698A>C | GRCh38 |
NC_000019.9:g.7592584A>C , CM000681.1:g.7592584A>C | GRCh37 |
NC_000019.8:g.7498584A>C | NCBI36 |
NG_015806.1:g.10089A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.680+70A>C MANE Select | ENSP00000264079.5:n.680+70A>C | |
ENST00000264079.10:c.680+70A>C | ENSP00000264079.5:n.680+70A>C | |
ENST00000394321.9:n.830A>C | ||
ENST00000598406.1:n.571A>C | ||
ENST00000601003.1:c.572-166A>C | ENSP00000469074.1:n.572-166A>C | |
NM_020533.2:c.680+70A>C | NP_065394.1:n.680+70A>C | |
NM_020533.3:c.680+70A>C MANE Select | NP_065394.1:n.680+70A>C |