HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160736898T>C , CM000668.2:g.160736898T>C | GRCh38 |
NC_000006.11:g.161157930T>C , CM000668.1:g.161157930T>C | GRCh37 |
NC_000006.10:g.161077920T>C | NCBI36 |
NG_016200.1:g.39706T>C , LRG_571:g.39706T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297289.9:c.646T>C | ENSP00000516619.1:p.Phe216Leu | |
ENST00000418964.2:c.1744T>C | ENSP00000389424.2:p.Phe582Leu | |
ENST00000706906.1:c.*1713T>C | ENSP00000516618.1:n.*1713T>C | |
ENST00000308192.14:c.1693T>C MANE Select | ENSP00000308938.9:p.Phe565Leu | |
ENST00000308192.13:c.1693T>C | ENSP00000308938.9:p.Phe565Leu | |
NM_000301.3:c.1693T>C , LRG_571t1:c.1693T>C | NP_000292.1:p.Phe565Leu | |
NM_000301.4:c.1693T>C | NP_000292.1:p.Phe565Leu | |
NM_000301.5:c.1693T>C MANE Select | NP_000292.1:p.Phe565Leu |