HGVS | Genome Assembly |
---|---|
NC_000019.10:g.918621T>C , CM000681.2:g.918621T>C | GRCh38 |
NC_000019.9:g.918621T>C , CM000681.1:g.918621T>C | GRCh37 |
NC_000019.8:g.869621T>C | NCBI36 |
NG_008277.1:g.6280T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234371.10:c.322T>C MANE Select | ENSP00000234371.3:p.Trp108Arg | |
ENST00000234371.9:c.322T>C | ENSP00000234371.3:p.Trp108Arg | |
ENST00000592648.1:c.245-869T>C | ENSP00000467666.1:n.245-869T>C | |
ENST00000606939.2:c.322T>C | ENSP00000475639.1:p.Trp108Arg | |
NM_032551.4:c.322T>C | NP_115940.2:p.Trp108Arg | |
XM_017027382.1:c.322T>C | XP_016882871.1:p.Trp108Arg | |
NM_032551.5:c.322T>C MANE Select | NP_115940.2:p.Trp108Arg |