HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116885dup , CM000669.2:g.19116885dup | GRCh38 |
NC_000007.13:g.19156508dup , CM000669.1:g.19156508dup | GRCh37 |
NC_000007.12:g.19123033dup | NCBI36 |
NG_008114.1:g.5789dup | |
NG_008114.2:g.5789dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.438dup MANE Select | ENSP00000242261.5:p.Gln147SerfsTer? | |
ENST00000242261.5:c.438dup | ENSP00000242261.5:p.Gln147SerfsTer? | |
ENST00000354571.5:c.235dup | ||
ENST00000443687.5:c.41dup | ||
NM_000474.3:c.438dup | NP_000465.1:p.Gln147SerfsTer? | |
XM_011515496.1:c.438dup | XP_011513798.1:p.Gln147SerfsTer? | |
NR_149001.1:n.789dup | ||
NM_000474.4:c.438dup MANE Select | NP_000465.1:p.Gln147SerfsTer? | |
NR_149001.2:n.753dup |