HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813721T>C , CM000671.2:g.129813721T>C | GRCh38 |
NC_000009.11:g.132576000T>C , CM000671.1:g.132576000T>C | GRCh37 |
NC_000009.10:g.131615821T>C | NCBI36 |
NG_008049.1:g.15442A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*251A>G MANE Select | ENSP00000345719.4:n.*251A>G | |
ENST00000651202.1:c.*518A>G | ENSP00000498222.1:n.*518A>G | |
ENST00000351698.4:c.*251A>G | ENSP00000345719.4:n.*251A>G | |
ENST00000474192.1:n.834A>G | ||
NM_000113.2:c.*251A>G | NP_000104.1:n.*251A>G | |
XR_929731.3:n.1445A>G | ||
NM_000113.3:c.*251A>G MANE Select | NP_000104.1:n.*251A>G |