HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816273T>G , CM000681.2:g.4816273T>G | GRCh38 |
NC_000019.9:g.4816285T>G , CM000681.1:g.4816285T>G | GRCh37 |
NC_000019.8:g.4767285T>G | NCBI36 |
NG_031998.1:g.20470A>C , LRG_358:g.20470A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2105A>C MANE Select | ENSP00000248244.4:p.Gln702Pro | |
ENST00000248244.5:c.2105A>C | ENSP00000248244.4:p.Gln702Pro | |
ENST00000621756.1:c.1607A>C | ENSP00000479467.1:p.Gln536Pro | |
NM_182919.3:c.2105A>C , LRG_358t1:c.2105A>C | NP_891549.1:p.Gln702Pro | |
NM_001385678.1:c.2063A>C | NP_001372607.1:p.Gln688Pro | |
NM_001385679.1:c.1970A>C | NP_001372608.1:p.Gln657Pro | |
NM_001385680.1:c.1463A>C | NP_001372609.1:p.Gln488Pro | |
NM_182919.4:c.2105A>C MANE Select | NP_891549.1:p.Gln702Pro |