HGVS | Genome Assembly |
---|---|
NC_000016.10:g.57529759T>C , CM000678.2:g.57529759T>C | GRCh38 |
NC_000016.9:g.57563671T>C , CM000678.1:g.57563671T>C | GRCh37 |
NC_000016.8:g.56121172T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258214.3:c.-147-435A>G (CCDC102A) MANE Select | ENSP00000258214.2:n.-147-435A>G | |
ENST00000258214.2:c.-147-435A>G (CCDC102A) | ENSP00000258214.2:n.-147-435A>G | |
NM_033212.3:c.-147-435A>G (CCDC102A) | NP_149989.2:n.-147-435A>G | |
XM_011522949.1:c.-39+340T>C (ADGRG5) | XP_011521251.1:n.-39+340T>C | |
XM_011523469.1:c.-147-435A>G (CCDC102A) | XP_011521771.1:n.-147-435A>G | |
XM_011522949.2:c.-39+340T>C (ADGRG5) | XP_011521251.1:n.-39+340T>C | |
XM_011523469.2:c.-147-435A>G (CCDC102A) | XP_011521771.1:n.-147-435A>G | |
NM_033212.4:c.-147-435A>G (CCDC102A) MANE Select | NP_149989.2:n.-147-435A>G |