HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12790425G>C , CM000686.2:g.12790425G>C | GRCh38 |
NC_000024.9:g.14902358G>C , CM000686.1:g.14902358G>C | GRCh37 |
NC_000024.8:g.13411752G>C | NCBI36 |
NG_008311.1:g.94199G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.3580G>C | ENSP00000498372.1:p.Asp1194His | |
ENST00000338981.7:c.3580G>C MANE Select | ENSP00000342812.3:p.Asp1194His | |
ENST00000426564.6:n.3592G>C | ||
NM_004654.3:c.3580G>C | NP_004645.2:p.Asp1194His | |
XM_011531469.1:c.3580G>C | XP_011529771.1:p.Asp1194His | |
XM_011531470.1:c.3346G>C | XP_011529772.1:p.Asp1116His | |
XM_017030078.2:c.3595G>C | XP_016885567.1:p.Asp1199His | |
NM_004654.4:c.3580G>C MANE Select | NP_004645.2:p.Asp1194His |