HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33438995A>G , CM000682.2:g.33438995A>G | GRCh38 |
NC_000020.10:g.32026801A>G , CM000682.1:g.32026801A>G | GRCh37 |
NC_000020.9:g.31490462A>G | NCBI36 |
NG_011622.1:g.9898T>C , LRG_332:g.9898T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.342T>C MANE Select | ENSP00000217381.2:p.Ile114= | |
ENST00000217381.2:c.342T>C | ENSP00000217381.2:p.Ile114= | |
NM_003098.2:c.342T>C , LRG_332t1:c.342T>C | NP_003089.1:p.Ile114= | |
XM_005260517.1:c.342T>C | XP_005260574.1:p.Ile114= | |
XM_011529007.1:c.342T>C | XP_011527309.1:p.Ile114= | |
XM_011529008.1:c.342T>C | XP_011527310.1:p.Ile114= | |
XR_936612.1:n.575T>C | ||
XM_024451971.1:c.15T>C | XP_024307739.1:p.Ile5= | |
NM_003098.3:c.342T>C MANE Select | NP_003089.1:p.Ile114= |