HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71785028A>G , CM000666.2:g.71785028A>G | GRCh38 |
NC_000004.11:g.72650745A>G , CM000666.1:g.72650745A>G | GRCh37 |
NC_000004.10:g.72869609A>G | NCBI36 |
NG_012837.2:g.25493T>C | |
NG_012837.3:g.25493T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000504199.5:c.22-974T>C | ENSP00000421725.1:n.22-974T>C | |
ENST00000506245.1:c.-37+892T>C | ENSP00000426718.1:n.-37+892T>C | |
NM_001204306.1:c.-36-974T>C | NP_001191235.1:n.-36-974T>C | |
NM_001204307.1:c.22-974T>C | NP_001191236.1:n.22-974T>C |