HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6250734G>A , CM000668.2:g.6250734G>A | GRCh38 |
NC_000006.11:g.6250967G>A , CM000668.1:g.6250967G>A | GRCh37 |
NC_000006.10:g.6195966G>A | NCBI36 |
NG_008107.1:g.74958C>T , LRG_549:g.74958C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.690+77C>T MANE Select | ENSP00000264870.3:n.690+77C>T | |
ENST00000264870.7:c.690+77C>T | ENSP00000264870.3:n.690+77C>T | |
NM_000129.3:c.690+77C>T , LRG_549t1:c.690+77C>T | NP_000120.2:n.690+77C>T | |
XM_006715010.2:c.690+77C>T | XP_006715073.1:n.690+77C>T | |
XM_011514342.1:c.852+77C>T | XP_011512644.1:n.852+77C>T | |
NM_000129.4:c.690+77C>T MANE Select | NP_000120.2:n.690+77C>T |