HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965988A>G , CM000670.2:g.37965988A>G | GRCh38 |
NC_000008.10:g.37823506A>G , CM000670.1:g.37823506A>G | GRCh37 |
NC_000008.9:g.37942663A>G | NCBI36 |
NG_011936.1:g.5679T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345060.5:c.482T>C MANE Select | ENSP00000343782.3:p.Val161Ala | |
ENST00000520341.2:n.610T>C | ||
ENST00000345060.4:c.482T>C | ENSP00000343782.3:p.Val161Ala | |
ENST00000614635.1:c.482T>C | ENSP00000480325.1:p.Val161Ala | |
NM_000025.2:c.482T>C | NP_000016.1:p.Val161Ala | |
NM_000025.3:c.482T>C MANE Select | NP_000016.1:p.Val161Ala |