HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150106209A>G , CM000667.2:g.150106209A>G | GRCh38 |
NC_000005.9:g.149485772A>G , CM000667.1:g.149485772A>G | GRCh37 |
NC_000005.8:g.149465965A>G | NCBI36 |
NG_012303.1:g.12164T>C | |
NG_012303.2:g.12164T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286301.7:c.-181+7052T>C | ENSP00000286301.3:n.-181+7052T>C | |
ENST00000511344.1:c.-396+7052T>C | ENSP00000421174.1:n.-396+7052T>C | |
NM_005211.3:c.-181+7052T>C | NP_005202.2:n.-181+7052T>C | |
NM_001375320.1:c.-286+7052T>C | NP_001362249.1:n.-286+7052T>C | |
NM_001375321.1:c.-396+7052T>C | NP_001362250.1:n.-396+7052T>C | |
NR_164679.1:n.105+7052T>C | ||
NM_005211.4:c.-181+7052T>C | NP_005202.2:n.-181+7052T>C |