HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123040612T>A , CM000672.2:g.123040612T>A | GRCh38 |
NC_000010.10:g.124800128T>A , CM000672.1:g.124800128T>A | GRCh37 |
NC_000010.9:g.124790118T>A | NCBI36 |
NG_008003.1:g.36700T>A , LRG_451:g.36700T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358776.7:c.450T>A MANE Select | ENSP00000357873.3:p.Ile150= | |
ENST00000358776.6:c.450T>A | ENSP00000357873.3:p.Ile150= | |
ENST00000368869.8:c.144T>A | ENSP00000357862.4:p.Ile48= | |
ENST00000411816.2:n.467T>A | ||
NM_001609.3:c.450T>A , LRG_451t1:c.450T>A | NP_001600.1:p.Ile150= | |
NM_001330174.1:c.144T>A | NP_001317103.1:p.Ile48= | |
NM_001330174.2:c.144T>A | NP_001317103.1:p.Ile48= | |
NM_001609.4:c.450T>A MANE Select | NP_001600.1:p.Ile150= | |
NM_001330174.3:c.144T>A | NP_001317103.1:p.Ile48= |