HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204155133G>T , CM000663.2:g.204155133G>T | GRCh38 |
NC_000001.10:g.204124261G>T , CM000663.1:g.204124261G>T | GRCh37 |
NC_000001.9:g.202390884G>T | NCBI36 |
NG_012122.1:g.16205C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.1104C>A MANE Select | ENSP00000272190.8:p.Ala368= | |
ENST00000638118.1:c.990C>A | ENSP00000490307.1:p.Ala330= | |
ENST00000272190.8:c.1104C>A | ENSP00000272190.8:p.Ala368= | |
NM_000537.3:c.1104C>A | NP_000528.1:p.Ala368= | |
NM_000537.4:c.1104C>A MANE Select | NP_000528.1:p.Ala368= |