HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816251C>A , CM000681.2:g.4816251C>A | GRCh38 |
NC_000019.9:g.4816263C>A , CM000681.1:g.4816263C>A | GRCh37 |
NC_000019.8:g.4767263C>A | NCBI36 |
NG_031998.1:g.20492G>T , LRG_358:g.20492G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2127G>T MANE Select | ENSP00000248244.4:p.Gln709His | |
ENST00000248244.5:c.2127G>T | ENSP00000248244.4:p.Gln709His | |
ENST00000621756.1:c.1629G>T | ENSP00000479467.1:p.Gln543His | |
NM_182919.3:c.2127G>T , LRG_358t1:c.2127G>T | NP_891549.1:p.Gln709His | |
NM_001385678.1:c.2085G>T | NP_001372607.1:p.Gln695His | |
NM_001385679.1:c.1992G>T | NP_001372608.1:p.Gln664His | |
NM_001385680.1:c.1485G>T | NP_001372609.1:p.Gln495His | |
NM_182919.4:c.2127G>T MANE Select | NP_891549.1:p.Gln709His |