HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37725665C>T , CM000684.2:g.37725665C>T | GRCh38 |
NC_000022.10:g.38121672C>T , CM000684.1:g.38121672C>T | GRCh37 |
NC_000022.9:g.36451618C>T | NCBI36 |
NG_012857.1:g.33678C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.3109C>T MANE Select | ENSP00000496394.1:p.Pro1037Ser | |
ENST00000344404.10:c.*2592C>T | ENSP00000340312.6:n.*2592C>T | |
ENST00000406386.7:c.3109C>T | ENSP00000384312.3:p.Pro1037Ser | |
ENST00000455236.4:c.4066C>T | ENSP00000477208.1:n.4066C>T | |
ENST00000492485.5:n.3043C>T | ||
NM_001039141.2:c.3109C>T | NP_001034230.1:p.Pro1037Ser | |
NM_001039141.3:c.3109C>T MANE Select | NP_001034230.1:p.Pro1037Ser |