HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189411C>T , CM000675.2:g.20189411C>T | GRCh38 |
NC_000013.10:g.20763550C>T , CM000675.1:g.20763550C>T | GRCh37 |
NC_000013.9:g.19661550C>T | NCBI36 |
NG_008358.1:g.8565G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382844.2:c.171G>A | ENSP00000372295.1:p.Gln57= | |
ENST00000382848.5:c.171G>A MANE Select | ENSP00000372299.4:p.Gln57= | |
ENST00000382844.1:c.171G>A | ENSP00000372295.1:p.Gln57= | |
ENST00000382848.4:c.171G>A | ENSP00000372299.4:p.Gln57= | |
NM_004004.5:c.171G>A | NP_003995.2:p.Gln57= | |
XM_011535049.1:c.171G>A | XP_011533351.1:p.Gln57= | |
XM_011535049.2:c.171G>A | XP_011533351.1:p.Gln57= | |
NM_004004.6:c.171G>A MANE Select | NP_003995.2:p.Gln57= |