HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832830T>C , CM000673.2:g.116832830T>C | GRCh38 |
NC_000011.9:g.116703546T>C , CM000673.1:g.116703546T>C | GRCh37 |
NC_000011.8:g.116208756T>C | NCBI36 |
NG_008949.1:g.7923T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.246T>C MANE Select | ENSP00000227667.2:p.Ser82= | |
ENST00000227667.7:c.246T>C | ENSP00000227667.2:p.Ser82= | |
ENST00000375345.3:c.300T>C | ENSP00000364494.1:p.Ser100= | |
ENST00000630701.1:c.300T>C | ENSP00000486182.1:p.Ser100= | |
NM_000040.1:c.246T>C | NP_000031.1:p.Ser82= | |
NM_000040.2:c.246T>C | NP_000031.1:p.Ser82= | |
NM_000040.3:c.246T>C MANE Select | NP_000031.1:p.Ser82= |