HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857647T>C , CM000686.2:g.12857647T>C | GRCh38 |
NC_000024.9:g.14969572T>C , CM000686.1:g.14969572T>C | GRCh37 |
NC_000024.8:g.13478966T>C | NCBI36 |
NG_008311.1:g.161413T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7516T>C | ENSP00000498372.1:p.Ser2506Pro | |
ENST00000338981.7:c.7516T>C MANE Select | ENSP00000342812.3:p.Ser2506Pro | |
ENST00000426564.6:n.7543T>C | ||
ENST00000453031.1:c.561T>C | ||
ENST00000471409.1:n.835T>C | ||
NM_004654.3:c.7516T>C | NP_004645.2:p.Ser2506Pro | |
XM_011531469.1:c.7516T>C | XP_011529771.1:p.Ser2506Pro | |
XM_011531470.1:c.7282T>C | XP_011529772.1:p.Ser2428Pro | |
XM_017030078.2:c.7531T>C | XP_016885567.1:p.Ser2511Pro | |
NM_004654.4:c.7516T>C MANE Select | NP_004645.2:p.Ser2506Pro |