HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308048A>T , CM000685.2:g.30308048A>T | GRCh38 |
NC_000023.10:g.30326165A>T , CM000685.1:g.30326165A>T | GRCh37 |
NC_000023.9:g.30236086A>T | NCBI36 |
NG_009814.1:g.6331T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378970.5:c.1168+148T>A MANE Select | ENSP00000368253.4:n.1168+148T>A | |
ENST00000378963.1:c.283+148T>A | ENSP00000368246.1:n.283+148T>A | |
ENST00000378970.4:c.1168+148T>A | ENSP00000368253.4:n.1168+148T>A | |
NM_000475.4:c.1168+148T>A | NP_000466.2:n.1168+148T>A | |
NM_000475.5:c.1168+148T>A MANE Select | NP_000466.2:n.1168+148T>A |