HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813842T= , CM000671.2:g.129813842T= | GRCh38 |
NC_000009.11:g.132576121T= , CM000671.1:g.132576121T= | GRCh37 |
NC_000009.10:g.131615942T= | NCBI36 |
NG_008049.1:g.15321A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*130A= MANE Select | ENSP00000345719.4:n.*130A= | |
ENST00000651202.1:c.*397A= | ENSP00000498222.1:n.*397A= | |
ENST00000351698.4:c.*130A= | ENSP00000345719.4:n.*130A= | |
ENST00000474192.1:n.713A= | ||
NM_000113.2:c.*130A= | NP_000104.1:n.*130A= | |
XR_929731.3:n.1324A= | ||
NM_000113.3:c.*130A= MANE Select | NP_000104.1:n.*130A= |