HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47353436C>G , CM000672.2:g.47353436C>G | GRCh38 |
NC_000010.10:g.48385926G>C , CM000672.1:g.48385926G>C | GRCh37 |
NC_000010.9:g.48005932G>C | NCBI36 |
NG_029718.1:g.10066C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.3166C>G MANE Select | ENSP00000463151.1:p.Leu1056Val | |
ENST00000584701.1:c.3166C>G | ENSP00000463151.1:p.Leu1056Val | |
NM_002900.2:c.3166C>G | NP_002891.1:p.Leu1056Val | |
NM_002900.3:c.3166C>G MANE Select | NP_002891.1:p.Leu1056Val |