HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101830822A>C , CM000674.2:g.101830822A>C | GRCh38 |
NC_000012.11:g.102224600A>C , CM000674.1:g.102224600A>C | GRCh37 |
NC_000012.10:g.100748731A>C | NCBI36 |
NG_021243.1:g.5046T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.-147T>G MANE Select | ENSP00000299314.7:n.-147T>G | |
ENST00000299314.11:c.-147T>G | ENSP00000299314.7:n.-147T>G | |
ENST00000392919.4:c.-147T>G | ENSP00000376651.4:n.-147T>G | |
NM_024312.4:c.-147T>G | NP_077288.2:n.-147T>G | |
XM_006719593.2:c.-147T>G | XP_006719656.1:n.-147T>G | |
XM_017019961.1:c.-296T>G | XP_016875450.1:n.-296T>G | |
NM_024312.5:c.-147T>G MANE Select | NP_077288.2:n.-147T>G |