HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38075059C>T , CM000664.2:g.38075059C>T | GRCh38 |
NC_000002.11:g.38302202C>T , CM000664.1:g.38302202C>T | GRCh37 |
NC_000002.10:g.38155706C>T | NCBI36 |
NG_008386.2:g.6043G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.330G>A | ENSP00000478839.2:p.Gln110= | |
ENST00000610745.5:c.330G>A MANE Select | ENSP00000478561.1:p.Gln110= | |
ENST00000490576.1:c.330G>A | ENSP00000478839.1:p.Gln110= | |
ENST00000494864.1:c.-70-3749G>A | ENSP00000479876.1:n.-70-3749G>A | |
ENST00000610745.4:c.330G>A | ENSP00000478561.1:p.Gln110= | |
ENST00000613082.1:n.376-651G>A | ||
ENST00000614273.1:c.330G>A | ENSP00000483678.1:p.Gln110= | |
NM_000104.3:c.330G>A | NP_000095.2:p.Gln110= | |
NM_000104.4:c.330G>A MANE Select | NP_000095.2:p.Gln110= |