HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35849013T>C , CM000681.2:g.35849013T>C | GRCh38 |
NC_000019.9:g.36339915T>C , CM000681.1:g.36339915T>C | GRCh37 |
NC_000019.8:g.41031755T>C | NCBI36 |
NG_013356.2:g.25275A>G , LRG_693:g.25275A>G | |
NG_051206.1:g.2379T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.975A>G MANE Select | ENSP00000368190.4:p.Ala325= | |
ENST00000353632.6:c.975A>G | ENSP00000343634.5:p.Ala325= | |
ENST00000378910.9:c.975A>G | ENSP00000368190.4:p.Ala325= | |
NM_004646.3:c.975A>G , LRG_693t1:c.975A>G | NP_004637.1:p.Ala325= | |
NM_004646.4:c.975A>G MANE Select | NP_004637.1:p.Ala325= |