HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104038354G= , CM000672.2:g.104038354G= | GRCh38 |
NC_000010.10:g.105798112G= , CM000672.1:g.105798112G= | GRCh37 |
NC_000010.9:g.105788102G= | NCBI36 |
NG_007069.1:g.52527C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.2935+52C= | ENSP00000358748.3:n.2935+52C= | |
ENST00000648076.2:c.3070+52C= MANE Select | ENSP00000497653.1:n.3070+52C= | |
ENST00000353479.9:c.3070+52C= | ENSP00000340937.5:n.3070+52C= | |
ENST00000369733.7:c.2935+52C= | ENSP00000358748.3:n.2935+52C= | |
NM_000494.3:c.3070+52C= | NP_000485.3:n.3070+52C= | |
NM_000494.4:c.3070+52C= MANE Select | NP_000485.3:n.3070+52C= |