Linked Data
ClinVar Variation Id:
133761
ClinVar RCV Id:
RCV000120405
RCV000129172
RCV000410168
RCV000411236
RCV000990031
RCV001082598
RCV001355393
RCV001798383
RCV000512967
dbSNP Id:
rs4988345
ExAC:
17:59924572 G / A
gnomAD v2:
17-59924572-G-A
gnomAD v3:
17-61847211-G-A
gnomAD v4:
17-61847211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61847211G>A , CM000679.2:g.61847211G>A | GRCh38 |
| NC_000017.10:g.59924572G>A , CM000679.1:g.59924572G>A | GRCh37 |
| NC_000017.9:g.57279354G>A | NCBI36 |
| NG_007409.2:g.21349C>T , LRG_300:g.21349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577913.2:c.517C>T | ENSP00000462274.2:p.Arg173Cys | |
| ENST00000579028.2:c.10C>T | ENSP00000463827.2:p.Arg4Cys | |
| ENST00000584322.2:c.517C>T | ENSP00000463272.2:p.Arg173Cys | |
| ENST00000682066.1:c.10C>T | ENSP00000507191.1:p.Arg4Cys | |
| ENST00000682369.1:c.517C>T | ENSP00000507450.1:p.Arg173Cys | |
| ENST00000682453.1:c.517C>T | ENSP00000506943.1:p.Arg173Cys | |
| ENST00000682477.1:c.517C>T | ENSP00000507075.1:p.Arg173Cys | |
| ENST00000682589.1:n.2258C>T | ||
| ENST00000682611.1:c.10C>T | ENSP00000508326.1:p.Arg4Cys | |
| ENST00000682755.1:c.517C>T | ENSP00000507660.1:p.Arg173Cys | |
| ENST00000682989.1:c.517C>T | ENSP00000507786.1:p.Arg173Cys | |
| ENST00000683039.1:c.517C>T | ENSP00000508303.1:p.Arg173Cys | |
| ENST00000683235.1:c.517C>T | ENSP00000507646.1:p.Arg173Cys | |
| ENST00000683381.1:c.517C>T | ENSP00000508184.1:p.Arg173Cys | |
| ENST00000683672.1:c.*5C>T | ENSP00000506781.1:n.*5C>T | |
| ENST00000683692.1:c.10C>T | ENSP00000507964.1:p.Arg4Cys | |
| ENST00000684584.1:c.10C>T | ENSP00000508044.1:p.Arg4Cys | |
| ENST00000259008.7:c.517C>T MANE Select | ENSP00000259008.2:p.Arg173Cys | |
| ENST00000259008.6:c.517C>T | ENSP00000259008.2:p.Arg173Cys | |
| ENST00000577598.5:c.517C>T | ENSP00000464654.1:p.Arg173Cys | |
| NM_032043.2:c.517C>T , LRG_300t1:c.517C>T | NP_114432.2:p.Arg173Cys | |
| XM_011525332.1:c.517C>T | XP_011523634.1:p.Arg173Cys | |
| XM_011525333.1:c.517C>T | XP_011523635.1:p.Arg173Cys | |
| XM_011525334.1:c.517C>T | XP_011523636.1:p.Arg173Cys | |
| XM_011525335.1:c.517C>T | XP_011523637.1:p.Arg173Cys | |
| XM_011525336.1:c.517C>T | XP_011523638.1:p.Arg173Cys | |
| XM_011525337.1:c.517C>T | XP_011523639.1:p.Arg173Cys | |
| XM_011525338.1:c.34C>T | XP_011523640.1:p.Arg12Cys | |
| XM_011525339.1:c.517C>T | XP_011523641.1:p.Arg173Cys | |
| XM_011525340.1:c.517C>T | XP_011523642.1:p.Arg173Cys | |
| XM_011525341.1:c.517C>T | XP_011523643.1:p.Arg173Cys | |
| XM_011525332.3:c.517C>T | XP_011523634.1:p.Arg173Cys | |
| XM_011525333.3:c.517C>T | XP_011523635.1:p.Arg173Cys | |
| XM_011525334.2:c.517C>T | XP_011523636.1:p.Arg173Cys | |
| XM_011525335.3:c.517C>T | XP_011523637.1:p.Arg173Cys | |
| XM_011525336.2:c.517C>T | XP_011523638.1:p.Arg173Cys | |
| XM_011525337.2:c.517C>T | XP_011523639.1:p.Arg173Cys | |
| XM_011525338.2:c.34C>T | XP_011523640.1:p.Arg12Cys | |
| XM_011525339.3:c.517C>T | XP_011523641.1:p.Arg173Cys | |
| XM_011525340.3:c.517C>T | XP_011523642.1:p.Arg173Cys | |
| XM_011525341.3:c.517C>T | XP_011523643.1:p.Arg173Cys | |
| XM_017025200.1:c.34C>T | XP_016880689.1:p.Arg12Cys | |
| NM_032043.3:c.517C>T MANE Select | NP_114432.2:p.Arg173Cys |