HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27095397G>C , CM000669.2:g.27095397G>C | GRCh38 |
NC_000007.13:g.27135016G>C , CM000669.1:g.27135016G>C | GRCh37 |
NC_000007.12:g.27101541G>C | NCBI36 |
NG_011813.1:g.5610C>G | |
NG_033087.1:g.4304G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643460.2:c.516C>G MANE Select | ENSP00000494260.2:p.Ala172= | |
ENST00000343060.4:c.516C>G | ENSP00000343246.4:p.Ala172= | |
ENST00000355633.5:c.355-42C>G | ENSP00000347851.5:n.355-42C>G | |
NM_005522.4:c.516C>G | NP_005513.1:p.Ala172= | |
NM_153620.2:c.355-42C>G | NP_705873.2:n.355-42C>G | |
NM_005522.5:c.516C>G MANE Select | NP_005513.2:p.Ala172= | |
NM_153620.3:c.355-42C>G | NP_705873.3:n.355-42C>G |