HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111803866T>C , CM000674.2:g.111803866T>C | GRCh38 |
NC_000012.11:g.112241670T>C , CM000674.1:g.112241670T>C | GRCh37 |
NC_000012.10:g.110726053T>C | NCBI36 |
NG_012250.1:g.42325T>C | |
NG_012250.2:g.41980T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261733.7:c.1414T>C MANE Select | ENSP00000261733.2:p.Cys472Arg | |
ENST00000261733.6:c.1414T>C | ENSP00000261733.2:p.Cys472Arg | |
ENST00000416293.7:c.1273T>C | ENSP00000403349.3:p.Cys425Arg | |
ENST00000548536.1:c.*1290T>C | ENSP00000448179.1:n.*1290T>C | |
ENST00000549106.1:c.345T>C | ||
NM_000690.3:c.1414T>C | NP_000681.2:p.Cys472Arg | |
NM_001204889.1:c.1273T>C | NP_001191818.1:p.Cys425Arg | |
NM_000690.4:c.1414T>C MANE Select | NP_000681.2:p.Cys472Arg | |
NM_001204889.2:c.1273T>C | NP_001191818.1:p.Cys425Arg |