HGVS | Genome Assembly |
---|---|
NC_000023.11:g.641265T>C , CM000685.2:g.641265T>C | GRCh38 |
NC_000023.10:g.602000T>C , CM000685.1:g.602000T>C | GRCh37 |
NC_000023.9:g.522000T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686671.1:c.633+178T>C MANE Select | ENSP00000508521.1:n.633+178T>C | |
ENST00000334060.8:c.633+178T>C | ENSP00000335505.3:n.633+178T>C | |
ENST00000381575.6:c.633+178T>C | ENSP00000370987.1:n.633+178T>C | |
ENST00000381578.6:c.633+178T>C | ENSP00000370990.1:n.633+178T>C | |
ENST00000554971.6:c.633+178T>C | ENSP00000452016.1:n.633+178T>C |