HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136648202T>C , CM000685.2:g.136648202T>C | GRCh38 |
NC_000023.10:g.135730361T>C , CM000685.1:g.135730361T>C | GRCh37 |
NC_000023.9:g.135558027T>C | NCBI36 |
NG_007280.1:g.5026T>C , LRG_141:g.5026T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.-47T>C | ENSP00000512122.1:n.-47T>C | |
ENST00000695725.1:c.-47T>C | ENSP00000512123.1:n.-47T>C | |
ENST00000370629.7:c.-47T>C MANE Select | ENSP00000359663.2:n.-47T>C | |
ENST00000370629.6:c.-47T>C | ENSP00000359663.2:n.-47T>C | |
NM_000074.2:c.-47T>C , LRG_141t1:c.-47T>C | NP_000065.1:n.-47T>C | |
NM_000074.3:c.-47T>C MANE Select | NP_000065.1:n.-47T>C |