HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813715C>T , CM000671.2:g.129813715C>T | GRCh38 |
NC_000009.11:g.132575994C>T , CM000671.1:g.132575994C>T | GRCh37 |
NC_000009.10:g.131615815C>T | NCBI36 |
NG_008049.1:g.15448G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*257G>A MANE Select | ENSP00000345719.4:n.*257G>A | |
ENST00000651202.1:c.*524G>A | ENSP00000498222.1:n.*524G>A | |
ENST00000351698.4:c.*257G>A | ENSP00000345719.4:n.*257G>A | |
ENST00000474192.1:n.840G>A | ||
NM_000113.2:c.*257G>A | NP_000104.1:n.*257G>A | |
XR_929731.3:n.1451G>A | ||
NM_000113.3:c.*257G>A MANE Select | NP_000104.1:n.*257G>A |