HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136747481C>T , CM000671.2:g.136747481C>T | GRCh38 |
NC_000009.11:g.139641933C>T , CM000671.1:g.139641933C>T | GRCh37 |
NC_000009.10:g.138761754C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341206.9:c.173G>A MANE Select | ENSP00000339621.3:p.Gly58Glu | |
ENST00000341206.8:c.173G>A | ENSP00000339621.3:p.Gly58Glu | |
ENST00000435202.5:c.143G>A | ENSP00000399627.1:p.Gly48Glu | |
NM_198946.2:c.173G>A | NP_945184.1:p.Gly58Glu | |
NR_033913.1:n.445C>T | ||
NM_198946.3:c.173G>A MANE Select | NP_945184.1:p.Gly58Glu |