HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370661T>A , CM000683.2:g.34370661T>A | GRCh38 |
NC_000021.8:g.35742960T>A , CM000683.1:g.35742960T>A | GRCh37 |
NC_000021.7:g.34664830T>A | NCBI36 |
NG_008804.1:g.11638T>A , LRG_291:g.11638T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.183T>A MANE Select | ENSP00000290310.2:p.Ser61= | |
ENST00000290310.3:c.183T>A | ENSP00000290310.2:p.Ser61= | |
NM_172201.1:c.183T>A , LRG_291t1:c.183T>A | NP_751951.1:p.Ser61= | |
XR_937683.1:n.660A>T | ||
XR_937684.1:n.660A>T | ||
XR_001755012.2:n.781A>T | ||
XR_001755013.2:n.660A>T | ||
XR_937683.2:n.660A>T | ||
NM_172201.2:c.183T>A MANE Select | NP_751951.1:p.Ser61= |