HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38076298C>G , CM000664.2:g.38076298C>G | GRCh38 |
NC_000002.11:g.38303440C>G , CM000664.1:g.38303440C>G | GRCh37 |
NC_000002.10:g.38156944C>G | NCBI36 |
NG_008386.2:g.4804G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000494864.1:c.-70-4988G>C | ENSP00000479876.1:n.-70-4988G>C | |
XM_011533236.1:c.912C>G | XP_011531538.1:p.Ala304= |