HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352536T>G , CM000671.2:g.133352536T>G | GRCh38 |
NC_000009.10:g.135209212T>G | NCBI36 |
NG_008477.1:g.8971A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.661A>C MANE Select | ENSP00000361042.3:p.Asn221His | |
ENST00000371974.7:c.661A>C | ENSP00000361042.3:p.Asn221His | |
ENST00000437995.1:n.571A>C | ||
ENST00000495952.5:n.651A>C | ||
ENST00000615505.4:c.334A>C | ENSP00000482067.1:p.Asn112His | |
NM_001280787.1:c.334A>C | NP_001267716.1:p.Asn112His | |
NM_003172.3:c.661A>C | NP_003163.1:p.Asn221His | |
XM_011518942.1:c.334A>C | XP_011517244.1:p.Asn112His | |
NM_003172.4:c.661A>C MANE Select | NP_003163.1:p.Asn221His |