HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585402A>C , CM000667.2:g.93585402A>C | GRCh38 |
NC_000005.9:g.92921108A>C , CM000667.1:g.92921108A>C | GRCh37 |
NC_000005.8:g.92946864A>C | NCBI36 |
NG_034119.1:g.7066A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.304A>C | ENSP00000481517.1:p.Asn102His | |
ENST00000327111.8:c.379A>C MANE Select | ENSP00000325819.3:p.Asn127His | |
ENST00000647447.1:c.226A>C | ENSP00000495740.1:p.Asn76His | |
ENST00000327111.7:c.379A>C | ENSP00000325819.3:p.Asn127His | |
ENST00000615873.1:c.304A>C | ENSP00000481517.1:p.Asn102His | |
NM_005654.5:c.379A>C | NP_005645.1:p.Asn127His | |
NM_005654.6:c.379A>C MANE Select | NP_005645.1:p.Asn127His |