HGVS | Genome Assembly |
---|---|
NC_000015.10:g.23686955G>A , CM000677.2:g.23686955G>A | GRCh38 |
NC_000015.9:g.23932102G>A , CM000677.1:g.23932102G>A | GRCh37 |
NC_000015.8:g.21483195G>A | NCBI36 |
NG_009380.1:g.5349C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649030.2:c.263C>T MANE Select | ENSP00000497916.1:p.Pro88Leu | |
ENST00000331837.5:c.263C>T | ENSP00000332643.4:p.Pro88Leu | |
NM_002487.2:c.263C>T | NP_002478.1:p.Pro88Leu | |
NM_002487.3:c.263C>T MANE Select | NP_002478.1:p.Pro88Leu |