HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118111546A>G , CM000670.2:g.118111546A>G | GRCh38 |
NC_000008.10:g.119123785A>G , CM000670.1:g.119123785A>G | GRCh37 |
NC_000008.9:g.119192966A>G | NCBI36 |
NG_007455.2:g.5274T>C , LRG_493:g.5274T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.7:c.-500T>C MANE Select | ENSP00000367446.3:n.-500T>C | |
ENST00000378204.6:c.-500T>C | ENSP00000367446.2:n.-500T>C | |
NM_000127.2:c.-500T>C , LRG_493t1:c.-500T>C | NP_000118.2:n.-500T>C | |
NM_000127.3:c.-500T>C MANE Select | NP_000118.2:n.-500T>C |