HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88427340T>C , CM000678.2:g.88427340T>C | GRCh38 |
NC_000016.9:g.88493748T>C , CM000678.1:g.88493748T>C | GRCh37 |
NC_000016.8:g.87021249T>C | NCBI36 |
NG_012236.2:g.4870T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000565624.3:c.-126-5T>C MANE Select | ENSP00000456500.2:n.-126-5T>C | |
XM_011523386.1:c.-126-5T>C | XP_011521688.1:n.-126-5T>C | |
XM_011523387.1:c.-126-5T>C | XP_011521689.1:n.-126-5T>C | |
XM_011523388.1:c.-126-5T>C | XP_011521690.1:n.-126-5T>C | |
XM_017023784.1:c.-131T>C | XP_016879273.1:n.-131T>C | |
XM_017023785.1:c.-126-5T>C | XP_016879274.1:n.-126-5T>C | |
XR_002957934.1:n.250+2624A>G | ||
NM_001367624.2:c.-126-5T>C MANE Select | NP_001354553.1:n.-126-5T>C |