HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40313625C>T , CM000679.2:g.40313625C>T | GRCh38 |
NC_000017.10:g.38469877C>T , CM000679.1:g.38469877C>T | GRCh37 |
NC_000017.9:g.35723403C>T | NCBI36 |
NG_027701.1:g.9455C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254066.10:c.-363+4339C>T MANE Select | ENSP00000254066.5:n.-363+4339C>T | |
ENST00000254066.9:c.-363+4339C>T | ENSP00000254066.5:n.-363+4339C>T | |
ENST00000577646.5:c.-440+4339C>T | ENSP00000464287.1:n.-440+4339C>T | |
NM_000964.3:c.-363+4339C>T | NP_000955.1:n.-363+4339C>T | |
XM_011525095.1:c.-440+4339C>T | XP_011523397.1:n.-440+4339C>T | |
NM_000964.4:c.-363+4339C>T MANE Select | NP_000955.1:n.-363+4339C>T |