HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827330T>C , CM000667.2:g.148827330T>C | GRCh38 |
NC_000005.9:g.148206893T>C , CM000667.1:g.148206893T>C | GRCh37 |
NC_000005.8:g.148187086T>C | NCBI36 |
NG_016421.1:g.5738T>C | |
NG_016421.2:g.5738T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.499T>C MANE Select | ENSP00000305372.4:p.Leu167= | |
ENST00000305988.5:c.499T>C | ENSP00000305372.4:p.Leu167= | |
NM_000024.5:c.499T>C | NP_000015.1:p.Leu167= | |
NM_000024.6:c.499T>C MANE Select | NP_000015.2:p.Leu167= |