HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33438882A>G , CM000682.2:g.33438882A>G | GRCh38 |
NC_000020.10:g.32026688A>G , CM000682.1:g.32026688A>G | GRCh37 |
NC_000020.9:g.31490349A>G | NCBI36 |
NG_011622.1:g.10011T>C , LRG_332:g.10011T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.455T>C MANE Select | ENSP00000217381.2:p.Val152Ala | |
ENST00000217381.2:c.455T>C | ENSP00000217381.2:p.Val152Ala | |
NM_003098.2:c.455T>C , LRG_332t1:c.455T>C | NP_003089.1:p.Val152Ala | |
XM_005260517.1:c.455T>C | XP_005260574.1:p.Val152Ala | |
XM_011529007.1:c.455T>C | XP_011527309.1:p.Val152Ala | |
XM_011529008.1:c.455T>C | XP_011527310.1:p.Val152Ala | |
XR_936612.1:n.688T>C | ||
XM_024451971.1:c.128T>C | XP_024307739.1:p.Val43Ala | |
NM_003098.3:c.455T>C MANE Select | NP_003089.1:p.Val152Ala |