HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814130T>C , CM000671.2:g.129814130T>C | GRCh38 |
NC_000009.11:g.132576409T>C , CM000671.1:g.132576409T>C | GRCh37 |
NC_000009.10:g.131616230T>C | NCBI36 |
NG_008049.1:g.15033A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.841A>G MANE Select | ENSP00000345719.4:p.Ile281Val | |
ENST00000651202.1:c.*109A>G | ENSP00000498222.1:n.*109A>G | |
ENST00000351698.4:c.841A>G | ENSP00000345719.4:p.Ile281Val | |
ENST00000474192.1:n.425A>G | ||
NM_000113.2:c.841A>G | NP_000104.1:p.Ile281Val | |
XR_929731.1:n.1168A>G | ||
XR_929731.3:n.1036A>G | ||
NM_000113.3:c.841A>G MANE Select | NP_000104.1:p.Ile281Val |