HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816301T>G , CM000681.2:g.4816301T>G | GRCh38 |
NC_000019.9:g.4816313T>G , CM000681.1:g.4816313T>G | GRCh37 |
NC_000019.8:g.4767313T>G | NCBI36 |
NG_031998.1:g.20442A>C , LRG_358:g.20442A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2077A>C MANE Select | ENSP00000248244.4:p.Asn693His | |
ENST00000248244.5:c.2077A>C | ENSP00000248244.4:p.Asn693His | |
ENST00000621756.1:c.1579A>C | ENSP00000479467.1:p.Asn527His | |
NM_182919.3:c.2077A>C , LRG_358t1:c.2077A>C | NP_891549.1:p.Asn693His | |
NM_001385678.1:c.2035A>C | NP_001372607.1:p.Asn679His | |
NM_001385679.1:c.1942A>C | NP_001372608.1:p.Asn648His | |
NM_001385680.1:c.1435A>C | NP_001372609.1:p.Asn479His | |
NM_182919.4:c.2077A>C MANE Select | NP_891549.1:p.Asn693His |