HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833801T>C , CM000686.2:g.12833801T>C | GRCh38 |
NC_000024.9:g.14945727T>C , CM000686.1:g.14945727T>C | GRCh37 |
NC_000024.8:g.13455121T>C | NCBI36 |
NG_008311.1:g.137568T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5135T>C | ENSP00000498372.1:p.Leu1712Pro | |
ENST00000338981.7:c.5135T>C MANE Select | ENSP00000342812.3:p.Leu1712Pro | |
ENST00000426564.6:n.5147T>C | ||
NM_004654.3:c.5135T>C | NP_004645.2:p.Leu1712Pro | |
XM_011531469.1:c.5135T>C | XP_011529771.1:p.Leu1712Pro | |
XM_011531470.1:c.4901T>C | XP_011529772.1:p.Leu1634Pro | |
XM_017030078.2:c.5150T>C | XP_016885567.1:p.Leu1717Pro | |
NM_004654.4:c.5135T>C MANE Select | NP_004645.2:p.Leu1712Pro |