HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816151G>C , CM000681.2:g.4816151G>C | GRCh38 |
NC_000019.9:g.4816163G>C , CM000681.1:g.4816163G>C | GRCh37 |
NC_000019.8:g.4767163G>C | NCBI36 |
NG_031998.1:g.20592C>G , LRG_358:g.20592C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.*88C>G MANE Select | ENSP00000248244.4:n.*88C>G | |
ENST00000248244.5:c.*88C>G | ENSP00000248244.4:n.*88C>G | |
NM_182919.3:c.*88C>G , LRG_358t1:c.*88C>G | NP_891549.1:n.*88C>G | |
NM_001385678.1:c.*88C>G | NP_001372607.1:n.*88C>G | |
NM_001385679.1:c.*88C>G | NP_001372608.1:n.*88C>G | |
NM_001385680.1:c.*88C>G | NP_001372609.1:n.*88C>G | |
NM_182919.4:c.*88C>G MANE Select | NP_891549.1:n.*88C>G |