HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833737T>C , CM000686.2:g.12833737T>C | GRCh38 |
NC_000024.9:g.14945663T>C , CM000686.1:g.14945663T>C | GRCh37 |
NC_000024.8:g.13455057T>C | NCBI36 |
NG_008311.1:g.137504T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5071T>C | ENSP00000498372.1:p.Phe1691Leu | |
ENST00000338981.7:c.5071T>C MANE Select | ENSP00000342812.3:p.Phe1691Leu | |
ENST00000426564.6:n.5083T>C | ||
NM_004654.3:c.5071T>C | NP_004645.2:p.Phe1691Leu | |
XM_011531469.1:c.5071T>C | XP_011529771.1:p.Phe1691Leu | |
XM_011531470.1:c.4837T>C | XP_011529772.1:p.Phe1613Leu | |
XM_017030078.2:c.5086T>C | XP_016885567.1:p.Phe1696Leu | |
NM_004654.4:c.5071T>C MANE Select | NP_004645.2:p.Phe1691Leu |