HGVS | Genome Assembly |
---|---|
NC_000003.12:g.42263639C>G , CM000665.2:g.42263639C>G | GRCh38 |
NC_000003.11:g.42305131C>G , CM000665.1:g.42305131C>G | GRCh37 |
NC_000003.10:g.42280135C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396169.7:c.-2-7G>C MANE Select | ENSP00000379472.2:n.-2-7G>C | |
ENST00000334681.9:c.-2-7G>C | ENSP00000335657.5:n.-2-7G>C | |
ENST00000396169.6:c.-2-7G>C | ENSP00000379472.2:n.-2-7G>C | |
ENST00000434608.1:c.-2-7G>C | ENSP00000409124.1:n.-2-7G>C | |
ENST00000484359.1:n.70-7G>C | ||
NM_000729.4:c.-2-7G>C | NP_000720.1:n.-2-7G>C | |
NM_001174138.1:c.-2-7G>C | NP_001167609.1:n.-2-7G>C | |
NM_000729.5:c.-2-7G>C | NP_000720.1:n.-2-7G>C | |
NM_001174138.2:c.-2-7G>C | NP_001167609.1:n.-2-7G>C | |
NM_000729.6:c.-2-7G>C MANE Select | NP_000720.1:n.-2-7G>C | |
NM_001174138.3:c.-2-7G>C | NP_001167609.1:n.-2-7G>C |