HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119080T>C , CM000664.2:g.176119080T>C | GRCh38 |
NC_000002.11:g.176983808T>C , CM000664.1:g.176983808T>C | GRCh37 |
NC_000002.10:g.176692054T>C | NCBI36 |
NG_008133.2:g.12317T>C , LRG_246:g.12317T>C | |
NG_009225.1:g.1396T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249501.5:c.872T>C MANE Select | ENSP00000249501.4:p.Leu291Pro | |
ENST00000249501.4:c.872T>C | ENSP00000249501.4:p.Leu291Pro | |
ENST00000490088.2:n.696T>C | ||
ENST00000549469.1:n.743T>C | ||
NM_002148.3:c.872T>C , LRG_246t1:c.872T>C | NP_002139.2:p.Leu291Pro | |
NM_002148.4:c.872T>C MANE Select | NP_002139.2:p.Leu291Pro |