HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133636729C>A , CM000671.2:g.133636729C>A | GRCh38 |
NC_000009.11:g.136501851C>A , CM000671.1:g.136501851C>A | GRCh37 |
NC_000009.10:g.135491672C>A | NCBI36 |
NG_008645.1:g.5367C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263611.3:c.333+19C>A | ENSP00000263611.3:n.333+19C>A | |
ENST00000393056.8:c.339+19C>A MANE Select | ENSP00000376776.2:n.339+19C>A | |
ENST00000263611.2:c.297+19C>A | ENSP00000263611.2:n.297+19C>A | |
ENST00000393056.6:c.339+19C>A | ENSP00000376776.2:n.339+19C>A | |
NM_000787.3:c.339+19C>A | NP_000778.3:n.339+19C>A | |
NM_000787.4:c.339+19C>A MANE Select | NP_000778.3:n.339+19C>A |