HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738828G>C , CM000674.2:g.120738828G>C | GRCh38 |
NC_000012.11:g.121176631G>C , CM000674.1:g.121176631G>C | GRCh37 |
NC_000012.10:g.119661014G>C | NCBI36 |
NG_007991.1:g.18061G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.942G>C MANE Select | ENSP00000242592.4:p.Leu314Phe | |
ENST00000242592.8:c.942G>C | ENSP00000242592.4:p.Leu314Phe | |
ENST00000411593.2:c.930G>C | ENSP00000401045.2:p.Leu310Phe | |
NM_000017.3:c.942G>C | NP_000008.1:p.Leu314Phe | |
NM_001302554.1:c.930G>C | NP_001289483.1:p.Leu310Phe | |
NM_000017.4:c.942G>C MANE Select | NP_000008.1:p.Leu314Phe | |
NM_001302554.2:c.930G>C | NP_001289483.1:p.Leu310Phe |