HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23802434A>G , CM000663.2:g.23802434A>G | GRCh38 |
NC_000001.10:g.24128924A>G , CM000663.1:g.24128924A>G | GRCh37 |
NC_000001.9:g.24001511A>G | NCBI36 |
NG_007068.1:g.3371T>C | |
NG_013061.1:g.28026T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374490.8:c.*29T>C MANE Select | ENSP00000363614.3:n.*29T>C | |
ENST00000235958.4:c.577T>C | ||
ENST00000374487.6:c.*1048T>C | ENSP00000363611.2:n.*1048T>C | |
ENST00000374490.7:c.*29T>C | ENSP00000363614.3:n.*29T>C | |
ENST00000436439.6:c.*29T>C | ENSP00000389281.2:n.*29T>C | |
NM_000191.2:c.*29T>C | NP_000182.2:n.*29T>C | |
NM_001166059.1:c.*29T>C | NP_001159531.1:n.*29T>C | |
NM_000191.3:c.*29T>C MANE Select | NP_000182.2:n.*29T>C | |
NM_001166059.2:c.*29T>C | NP_001159531.1:n.*29T>C |