HGVS | Genome Assembly |
---|---|
NC_000001.11:g.111776181C>A , CM000663.2:g.111776181C>A | GRCh38 |
NC_000001.10:g.112318803C>A , CM000663.1:g.112318803C>A | GRCh37 |
NC_000001.9:g.112120326C>A | NCBI36 |
NG_032011.2:g.217975G>T , LRG_445:g.217975G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302127.5:c.1864G>T MANE Select | ENSP00000306923.4:p.Ala622Ser | |
ENST00000302127.4:c.1807G>T | ENSP00000306923.3:p.Ala603Ser | |
ENST00000315987.6:c.1864G>T | ENSP00000319591.2:p.Ala622Ser | |
ENST00000369697.5:c.1807G>T | ENSP00000358711.1:p.Ala603Ser | |
NM_004980.4:c.1864G>T , LRG_445t1:c.1864G>T | NP_004971.2:p.Ala622Ser | |
NM_172198.2:c.1807G>T | NP_751948.1:p.Ala603Ser | |
XM_005270851.3:c.1864G>T | XP_005270908.1:p.Ala622Ser | |
XM_006710629.2:c.1864G>T | XP_006710692.1:p.Ala622Ser | |
XM_006710630.2:c.1807G>T | XP_006710693.1:p.Ala603Ser | |
XM_006710631.2:c.*83G>T | XP_006710694.1:n.*83G>T | |
XM_005270851.4:c.1864G>T | XP_005270908.1:p.Ala622Ser | |
XM_006710629.4:c.1864G>T | XP_006710692.1:p.Ala622Ser | |
XM_006710630.3:c.1807G>T | XP_006710693.1:p.Ala603Ser | |
XM_006710631.3:c.*83G>T | XP_006710694.1:n.*83G>T | |
XM_017001244.2:c.1864G>T | XP_016856733.1:p.Ala622Ser | |
NM_001378969.1:c.1864G>T MANE Select | NP_001365898.1:p.Ala622Ser | |
NM_001378970.1:c.1807G>T | NP_001365899.1:p.Ala603Ser | |
NM_004980.5:c.1864G>T | NP_004971.2:p.Ala622Ser | |
NM_172198.3:c.1807G>T | NP_751948.1:p.Ala603Ser |