HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88727055T>G , CM000678.2:g.88727055T>G | GRCh38 |
NC_000016.9:g.88793463T>G , CM000678.1:g.88793463T>G | GRCh37 |
NC_000016.8:g.87320964T>G | NCBI36 |
NG_042229.1:g.63166A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.3439A>C MANE Select | ENSP00000301015.9:p.Asn1147His | |
ENST00000491917.2:n.425A>C | ||
ENST00000301015.13:c.3439A>C | ENSP00000301015.9:p.Asn1147His | |
NM_001142864.2:c.3439A>C | NP_001136336.2:p.Asn1147His | |
NM_001142864.3:c.3439A>C | NP_001136336.2:p.Asn1147His | |
NM_001142864.4:c.3439A>C MANE Select | NP_001136336.2:p.Asn1147His |