HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137569113G>A , CM000685.2:g.137569113G>A | GRCh38 |
NC_000023.10:g.136651272G>A , CM000685.1:g.136651272G>A | GRCh37 |
NC_000023.9:g.136478938G>A | NCBI36 |
NG_008115.1:g.7927G>A | |
NG_008115.2:g.7987G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.1224+48G>A MANE Select | ENSP00000287538.5:n.1224+48G>A | |
ENST00000287538.9:c.1224+48G>A | ENSP00000287538.5:n.1224+48G>A | |
ENST00000370606.3:c.1224+48G>A | ENSP00000359638.3:n.1224+48G>A | |
ENST00000478471.1:n.261+48G>A | ||
NM_003413.3:c.1224+48G>A | NP_003404.1:n.1224+48G>A | |
NM_001330661.1:c.1224+48G>A | NP_001317590.1:n.1224+48G>A | |
NM_003413.4:c.1224+48G>A MANE Select | NP_003404.1:n.1224+48G>A |