HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818718T>A , CM000671.2:g.129818718T>A | GRCh38 |
NC_000009.11:g.132580997T>A , CM000671.1:g.132580997T>A | GRCh37 |
NC_000009.10:g.131620818T>A | NCBI36 |
NG_008049.1:g.10445A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.620+27A>T MANE Select | ENSP00000345719.4:n.620+27A>T | |
ENST00000651202.1:c.716+27A>T | ENSP00000498222.1:n.716+27A>T | |
ENST00000351698.4:c.620+27A>T | ENSP00000345719.4:n.620+27A>T | |
ENST00000473604.2:n.730+27A>T | ||
ENST00000474192.1:n.37+27A>T | ||
NM_000113.2:c.620+27A>T | NP_000104.1:n.620+27A>T | |
XR_929731.1:n.780+27A>T | ||
XR_929731.3:n.648+27A>T | ||
NM_000113.3:c.620+27A>T MANE Select | NP_000104.1:n.620+27A>T |