HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572875A>G , CM000685.2:g.47572875A>G | GRCh38 |
NC_000023.10:g.47432274A>G , CM000685.1:g.47432274A>G | GRCh37 |
NC_000023.9:g.47317218A>G | NCBI36 |
NG_008437.1:g.51983T>C | |
NG_016339.1:g.16759A>G | |
NG_016339.2:g.16759A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2107T>C MANE Select | ENSP00000295987.7:p.Phe703Leu | |
ENST00000340666.5:c.*59T>C | ENSP00000343206.4:n.*59T>C | |
ENST00000640721.1:c.157T>C | ENSP00000492857.1:p.Phe53Leu | |
ENST00000295987.11:c.2107T>C | ENSP00000295987.7:p.Phe703Leu | |
ENST00000340666.4:c.*59T>C | ENSP00000343206.4:n.*59T>C | |
NM_006950.3:c.2107T>C MANE Select | NP_008881.2:p.Phe703Leu | |
NM_133499.2:c.*59T>C | NP_598006.1:n.*59T>C |