HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193380A>T , CM000679.2:g.73193380A>T | GRCh38 |
NC_000017.10:g.71189519A>T , CM000679.1:g.71189519A>T | GRCh37 |
NC_000017.9:g.68701114A>T | NCBI36 |
NG_008971.1:g.5347A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.311A>T MANE Select | ENSP00000299886.4:p.Gln104Leu | |
ENST00000299886.8:c.311A>T | ENSP00000299886.4:p.Gln104Leu | |
ENST00000438720.7:c.309A>T | ||
ENST00000582587.2:c.288A>T | ||
ENST00000618996.4:c.311A>T | ENSP00000479450.1:p.Gln104Leu | |
NM_018714.2:c.311A>T | NP_061184.1:p.Gln104Leu | |
NM_018714.3:c.311A>T MANE Select | NP_061184.1:p.Gln104Leu |