HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584712G>T , CM000673.2:g.67584712G>T | GRCh38 |
NC_000011.9:g.67352183G>T , CM000673.1:g.67352183G>T | GRCh37 |
NC_000011.8:g.67108759G>T | NCBI36 |
NG_012075.1:g.6118G>T , LRG_723:g.6118G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.172G>T | ENSP00000381604.1:p.Asp58Tyr | |
ENST00000398606.10:c.172G>T MANE Select | ENSP00000381607.3:p.Asp58Tyr | |
ENST00000646888.1:c.65G>T | ENSP00000494477.1:p.Gly22Val | |
ENST00000398603.5:c.172G>T | ENSP00000381604.1:p.Asp58Tyr | |
ENST00000398606.7:c.172G>T | ENSP00000381607.3:p.Asp58Tyr | |
ENST00000489040.1:n.171G>T | ||
ENST00000494593.1:n.602G>T | ||
ENST00000498765.5:c.135G>T | ||
NM_000852.3:c.172G>T , LRG_723t1:c.172G>T | NP_000843.1:p.Asp58Tyr | |
NM_000852.4:c.172G>T MANE Select | NP_000843.1:p.Asp58Tyr |