HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91723950C>T , CM000671.2:g.91723950C>T | GRCh38 |
NC_000009.11:g.94486232C>T , CM000671.1:g.94486232C>T | GRCh37 |
NC_000009.10:g.93526053C>T | NCBI36 |
NG_008089.1:g.231213G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.2544G>A MANE Select | ENSP00000364860.3:p.Pro848= | |
ENST00000375708.3:c.2544G>A | ENSP00000364860.3:p.Pro848= | |
ENST00000375715.5:c.1920+204G>A | ENSP00000364867.1:n.1920+204G>A | |
ENST00000550066.5:n.3012G>A | ||
NM_004560.3:c.2544G>A | NP_004551.2:p.Pro848= | |
XM_005252008.3:c.2124G>A | XP_005252065.1:p.Pro708= | |
XM_005252009.3:c.1341G>A | XP_005252066.1:p.Pro447= | |
XM_006717121.2:c.2124G>A | XP_006717184.1:p.Pro708= | |
XM_011518721.1:c.2124G>A | XP_011517023.1:p.Pro708= | |
XM_005252008.4:c.2124G>A | XP_005252065.1:p.Pro708= | |
XM_006717121.3:c.2124G>A | XP_006717184.1:p.Pro708= | |
XM_017014762.1:c.2535G>A | XP_016870251.1:p.Pro845= | |
XM_017014763.1:c.2124G>A | XP_016870252.1:p.Pro708= | |
NM_004560.4:c.2544G>A MANE Select | NP_004551.2:p.Pro848= |