HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818967C>A , CM000671.2:g.129818967C>A | GRCh38 |
NC_000009.11:g.132581246C>A , CM000671.1:g.132581246C>A | GRCh37 |
NC_000009.10:g.131621067C>A | NCBI36 |
NG_008049.1:g.10196G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.445-47G>T MANE Select | ENSP00000345719.4:n.445-47G>T | |
ENST00000651202.1:c.541-47G>T | ENSP00000498222.1:n.541-47G>T | |
ENST00000351698.4:c.445-47G>T | ENSP00000345719.4:n.445-47G>T | |
ENST00000473604.2:n.555-47G>T | ||
NM_000113.2:c.445-47G>T | NP_000104.1:n.445-47G>T | |
XR_929731.1:n.605-47G>T | ||
XR_929731.3:n.473-47G>T | ||
NM_000113.3:c.445-47G>T MANE Select | NP_000104.1:n.445-47G>T |