HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816207T>C , CM000681.2:g.4816207T>C | GRCh38 |
NC_000019.9:g.4816219T>C , CM000681.1:g.4816219T>C | GRCh37 |
NC_000019.8:g.4767219T>C | NCBI36 |
NG_031998.1:g.20536A>G , LRG_358:g.20536A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.*32A>G MANE Select | ENSP00000248244.4:n.*32A>G | |
ENST00000248244.5:c.*32A>G | ENSP00000248244.4:n.*32A>G | |
NM_182919.3:c.*32A>G , LRG_358t1:c.*32A>G | NP_891549.1:n.*32A>G | |
NM_001385678.1:c.*32A>G | NP_001372607.1:n.*32A>G | |
NM_001385679.1:c.*32A>G | NP_001372608.1:n.*32A>G | |
NM_001385680.1:c.*32A>G | NP_001372609.1:n.*32A>G | |
NM_182919.4:c.*32A>G MANE Select | NP_891549.1:n.*32A>G |