HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814022T>G , CM000671.2:g.129814022T>G | GRCh38 |
NC_000009.11:g.132576301T>G , CM000671.1:g.132576301T>G | GRCh37 |
NC_000009.10:g.131616122T>G | NCBI36 |
NG_008049.1:g.15141A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.949A>C MANE Select | ENSP00000345719.4:p.Lys317Gln | |
ENST00000651202.1:c.*217A>C | ENSP00000498222.1:n.*217A>C | |
ENST00000351698.4:c.949A>C | ENSP00000345719.4:p.Lys317Gln | |
ENST00000474192.1:n.533A>C | ||
NM_000113.2:c.949A>C | NP_000104.1:p.Lys317Gln | |
XR_929731.3:n.1144A>C | ||
NM_000113.3:c.949A>C MANE Select | NP_000104.1:p.Lys317Gln |