HGVS | Genome Assembly |
---|---|
NC_000001.11:g.98695626T>C , CM000663.2:g.98695626T>C | GRCh38 |
NC_000001.10:g.99161182T>C , CM000663.1:g.99161182T>C | GRCh37 |
NC_000001.9:g.98933770T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306121.8:c.748T>C MANE Select | ENSP00000304429.3:p.Phe250Leu | |
ENST00000306121.7:c.748T>C | ENSP00000304429.3:p.Phe250Leu | |
ENST00000528824.1:c.*568T>C | ENSP00000435172.1:n.*568T>C | |
ENST00000529992.5:c.583T>C | ENSP00000434731.1:p.Phe195Leu | |
NM_015976.4:c.748T>C | NP_057060.2:p.Phe250Leu | |
NM_152238.3:c.583T>C | NP_689424.2:p.Phe195Leu | |
NR_033716.1:n.920T>C | ||
XM_006710677.1:c.814T>C | XP_006710740.1:p.Phe272Leu | |
XM_006710678.1:c.556T>C | XP_006710741.1:p.Phe186Leu | |
XM_011541564.1:c.556T>C | XP_011539866.1:p.Phe186Leu | |
NM_001364903.1:c.556T>C | NP_001351832.1:p.Phe186Leu | |
XM_006710677.2:c.814T>C | XP_006710740.1:p.Phe272Leu | |
XM_011541564.3:c.556T>C | XP_011539866.1:p.Phe186Leu | |
XM_017001425.2:c.556T>C | XP_016856914.1:p.Phe186Leu | |
XM_017001426.2:c.556T>C | XP_016856915.1:p.Phe186Leu | |
XM_017001427.2:c.556T>C | XP_016856916.1:p.Phe186Leu | |
XM_017001428.1:c.556T>C | XP_016856917.1:p.Phe186Leu | |
NM_015976.5:c.748T>C MANE Select | NP_057060.2:p.Phe250Leu | |
NM_152238.4:c.583T>C | NP_689424.2:p.Phe195Leu | |
NR_033716.2:n.879T>C |