HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118111626T>C , CM000670.2:g.118111626T>C | GRCh38 |
NC_000008.10:g.119123865T>C , CM000670.1:g.119123865T>C | GRCh37 |
NC_000008.9:g.119193046T>C | NCBI36 |
NG_007455.2:g.5194A>G , LRG_493:g.5194A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.7:c.-580A>G MANE Select | ENSP00000367446.3:n.-580A>G | |
ENST00000378204.6:c.-580A>G | ENSP00000367446.2:n.-580A>G | |
NM_000127.2:c.-580A>G , LRG_493t1:c.-580A>G | NP_000118.2:n.-580A>G | |
NM_000127.3:c.-580A>G MANE Select | NP_000118.2:n.-580A>G |