HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123040606A>G , CM000672.2:g.123040606A>G | GRCh38 |
NC_000010.10:g.124800122A>G , CM000672.1:g.124800122A>G | GRCh37 |
NC_000010.9:g.124790112A>G | NCBI36 |
NG_008003.1:g.36694A>G , LRG_451:g.36694A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358776.7:c.444A>G MANE Select | ENSP00000357873.3:p.Thr148= | |
ENST00000358776.6:c.444A>G | ENSP00000357873.3:p.Thr148= | |
ENST00000368869.8:c.138A>G | ENSP00000357862.4:p.Thr46= | |
ENST00000411816.2:n.461A>G | ||
NM_001609.3:c.444A>G , LRG_451t1:c.444A>G | NP_001600.1:p.Thr148= | |
NM_001330174.1:c.138A>G | NP_001317103.1:p.Thr46= | |
NM_001330174.2:c.138A>G | NP_001317103.1:p.Thr46= | |
NM_001609.4:c.444A>G MANE Select | NP_001600.1:p.Thr148= | |
NM_001330174.3:c.138A>G | NP_001317103.1:p.Thr46= |