HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193290T>A , CM000679.2:g.73193290T>A | GRCh38 |
NC_000017.10:g.71189429T>A , CM000679.1:g.71189429T>A | GRCh37 |
NC_000017.9:g.68701024T>A | NCBI36 |
NG_008971.1:g.5257T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.221T>A MANE Select | ENSP00000299886.4:p.Val74Glu | |
ENST00000299886.8:c.221T>A | ENSP00000299886.4:p.Val74Glu | |
ENST00000438720.7:c.219T>A | ||
ENST00000582587.2:c.198T>A | ||
ENST00000618996.4:c.221T>A | ENSP00000479450.1:p.Val74Glu | |
NM_018714.2:c.221T>A | NP_061184.1:p.Val74Glu | |
NM_018714.3:c.221T>A MANE Select | NP_061184.1:p.Val74Glu |