HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33850970T>C , CM000682.2:g.33850970T>C | GRCh38 |
NC_000020.10:g.32438776T>C , CM000682.1:g.32438776T>C | GRCh37 |
NC_000020.9:g.31902437T>C | NCBI36 |
NG_015820.1:g.44667T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217402.3:c.387T>C MANE Select | ENSP00000217402.2:p.Asp129= | |
ENST00000217402.2:c.387T>C | ENSP00000217402.2:p.Asp129= | |
NM_176812.4:c.387T>C | NP_789782.1:p.Asp129= | |
NM_176812.5:c.387T>C MANE Select | NP_789782.1:p.Asp129= |