HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320488G>C , CM000667.2:g.159320488G>C | GRCh38 |
NC_000005.9:g.158747496G>C , CM000667.1:g.158747496G>C | GRCh37 |
NC_000005.8:g.158680074G>C | NCBI36 |
NG_009618.1:g.14986C>G , LRG_71:g.14986C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-116C>G | ENSP00000512849.1:n.-116C>G | |
ENST00000696751.1:c.*10C>G | ENSP00000512850.1:n.*10C>G | |
ENST00000231228.3:c.515C>G MANE Select | ENSP00000231228.2:p.Ala172Gly | |
ENST00000231228.2:c.515C>G | ENSP00000231228.2:p.Ala172Gly | |
NM_002187.2:c.515C>G , LRG_71t1:c.515C>G | NP_002178.2:p.Ala172Gly | |
XR_001742945.1:n.39G>C | ||
NM_002187.3:c.515C>G MANE Select | NP_002178.2:p.Ala172Gly |