HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61863458C>T , CM000679.2:g.61863458C>T | GRCh38 |
NC_000017.10:g.59940819C>T , CM000679.1:g.59940819C>T | GRCh37 |
NC_000017.9:g.57295601C>T | NCBI36 |
NG_007409.2:g.5102G>A , LRG_300:g.5102G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000577913.2:c.-201G>A | ENSP00000462274.2:n.-201G>A | |
ENST00000682453.1:c.-74+16G>A | ENSP00000506943.1:n.-74+16G>A | |
ENST00000682477.1:c.-205G>A | ENSP00000507075.1:n.-205G>A | |
ENST00000682989.1:c.-201G>A | ENSP00000507786.1:n.-201G>A | |
ENST00000683235.1:c.-201G>A | ENSP00000507646.1:n.-201G>A | |
ENST00000683672.1:c.-267G>A | ENSP00000506781.1:n.-267G>A | |
ENST00000259008.7:c.-205G>A MANE Select | ENSP00000259008.2:n.-205G>A | |
ENST00000259008.6:c.-205G>A | ENSP00000259008.2:n.-205G>A | |
NM_032043.2:c.-205G>A , LRG_300t1:c.-205G>A | NP_114432.2:n.-205G>A | |
XM_011525332.1:c.-205G>A | XP_011523634.1:n.-205G>A | |
XM_011525333.1:c.-201G>A | XP_011523635.1:n.-201G>A | |
XM_011525335.1:c.-205G>A | XP_011523637.1:n.-205G>A | |
XM_011525336.1:c.-205G>A | XP_011523638.1:n.-205G>A | |
XM_011525337.1:c.-205G>A | XP_011523639.1:n.-205G>A | |
XM_011525339.1:c.-205G>A | XP_011523641.1:n.-205G>A | |
XM_011525340.1:c.-205G>A | XP_011523642.1:n.-205G>A | |
XM_011525341.1:c.-205G>A | XP_011523643.1:n.-205G>A | |
XM_011525332.3:c.-205G>A | XP_011523634.1:n.-205G>A | |
XM_011525333.3:c.-201G>A | XP_011523635.1:n.-201G>A | |
XM_011525335.3:c.-205G>A | XP_011523637.1:n.-205G>A | |
XM_011525336.2:c.-205G>A | XP_011523638.1:n.-205G>A | |
XM_011525337.2:c.-205G>A | XP_011523639.1:n.-205G>A | |
XM_011525339.3:c.-205G>A | XP_011523641.1:n.-205G>A | |
XM_011525340.3:c.-205G>A | XP_011523642.1:n.-205G>A | |
XM_011525341.3:c.-205G>A | XP_011523643.1:n.-205G>A | |
NM_032043.3:c.-205G>A MANE Select | NP_114432.2:n.-205G>A |