HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91724005T>C , CM000671.2:g.91724005T>C | GRCh38 |
NC_000009.11:g.94486287T>C , CM000671.1:g.94486287T>C | GRCh37 |
NC_000009.10:g.93526108T>C | NCBI36 |
NG_008089.1:g.231158A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.2489A>G MANE Select | ENSP00000364860.3:p.Tyr830Cys | |
ENST00000375708.3:c.2489A>G | ENSP00000364860.3:p.Tyr830Cys | |
ENST00000375715.5:c.1920+149A>G | ENSP00000364867.1:n.1920+149A>G | |
ENST00000550066.5:n.2957A>G | ||
NM_004560.3:c.2489A>G | NP_004551.2:p.Tyr830Cys | |
XM_005252008.3:c.2069A>G | XP_005252065.1:p.Tyr690Cys | |
XM_005252009.3:c.1286A>G | XP_005252066.1:p.Tyr429Cys | |
XM_006717121.2:c.2069A>G | XP_006717184.1:p.Tyr690Cys | |
XM_011518721.1:c.2069A>G | XP_011517023.1:p.Tyr690Cys | |
XM_005252008.4:c.2069A>G | XP_005252065.1:p.Tyr690Cys | |
XM_006717121.3:c.2069A>G | XP_006717184.1:p.Tyr690Cys | |
XM_017014762.1:c.2480A>G | XP_016870251.1:p.Tyr827Cys | |
XM_017014763.1:c.2069A>G | XP_016870252.1:p.Tyr690Cys | |
NM_004560.4:c.2489A>G MANE Select | NP_004551.2:p.Tyr830Cys |