HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33439015T>G , CM000682.2:g.33439015T>G | GRCh38 |
NC_000020.10:g.32026821T>G , CM000682.1:g.32026821T>G | GRCh37 |
NC_000020.9:g.31490482T>G | NCBI36 |
NG_011622.1:g.9878A>C , LRG_332:g.9878A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.322A>C MANE Select | ENSP00000217381.2:p.Asn108His | |
ENST00000217381.2:c.322A>C | ENSP00000217381.2:p.Asn108His | |
NM_003098.2:c.322A>C , LRG_332t1:c.322A>C | NP_003089.1:p.Asn108His | |
XM_005260517.1:c.322A>C | XP_005260574.1:p.Asn108His | |
XM_011529007.1:c.322A>C | XP_011527309.1:p.Asn108His | |
XM_011529008.1:c.322A>C | XP_011527310.1:p.Asn108His | |
XR_936612.1:n.555A>C | ||
XM_024451971.1:c.-6A>C | XP_024307739.1:n.-6A>C | |
NM_003098.3:c.322A>C MANE Select | NP_003089.1:p.Asn108His |