Linked Data
ClinVar Variation Id:
654471
ClinVar RCV Id:
RCV000810440
dbSNP Id:
rs781291421
ExAC:
6:145956604 C / A
gnomAD v2:
6-145956604-C-A
gnomAD v3:
6-145635468-C-A
gnomAD v4:
6-145635468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145635468C>A , CM000668.2:g.145635468C>A | GRCh38 |
| NC_000006.11:g.145956604C>A , CM000668.1:g.145956604C>A | GRCh37 |
| NC_000006.10:g.145998297C>A | NCBI36 |
| NG_012832.1:g.105388G>T | |
| NG_012832.2:g.105388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.495G>T MANE Select | ENSP00000356489.3:p.Trp165Cys | |
| ENST00000435470.2:c.495G>T | ENSP00000405913.2:p.Trp165Cys | |
| ENST00000450221.6:c.117G>T | ENSP00000414900.2:p.Trp39Cys | |
| ENST00000496228.2:n.463G>T | ||
| ENST00000611340.5:c.81G>T | ENSP00000480268.1:p.Trp27Cys | |
| ENST00000638262.1:c.477-7775G>T | ENSP00000492876.1:n.477-7775G>T | |
| ENST00000638554.1:c.434G>T | ENSP00000492823.1:n.434G>T | |
| ENST00000638717.1:c.278G>T | ||
| ENST00000638778.1:c.81G>T | ENSP00000491353.1:p.Trp27Cys | |
| ENST00000638783.1:c.81G>T | ENSP00000491338.1:p.Trp27Cys | |
| ENST00000639049.1:c.722G>T | ||
| ENST00000639423.1:c.81G>T | ENSP00000492701.1:p.Trp27Cys | |
| ENST00000639465.1:c.81G>T | ENSP00000491180.1:p.Trp27Cys | |
| ENST00000639648.1:n.76G>T | ||
| ENST00000639799.1:n.1036G>T | ||
| ENST00000639849.1:c.*29G>T | ENSP00000491224.1:n.*29G>T | |
| ENST00000639859.1:n.5819G>T | ||
| ENST00000640225.1:c.*29G>T | ENSP00000492179.1:n.*29G>T | |
| ENST00000640297.1:n.336G>T | ||
| ENST00000640351.1:c.231G>T | ||
| ENST00000640980.1:c.63-7775G>T | ENSP00000491191.1:n.63-7775G>T | |
| ENST00000367519.7:c.495G>T | ENSP00000356489.3:p.Trp165Cys | |
| ENST00000435470.1:c.254G>T | ||
| ENST00000450221.5:c.194G>T | ||
| ENST00000489412.1:n.114G>T | ||
| ENST00000496228.1:n.389G>T | ||
| ENST00000611340.4:c.81G>T | ENSP00000480268.1:p.Trp27Cys | |
| ENST00000618445.4:c.495G>T | ENSP00000480339.1:p.Trp165Cys | |
| NM_001018041.1:c.495G>T | NP_001018051.1:p.Trp165Cys | |
| NM_005670.3:c.495G>T | NP_005661.1:p.Trp165Cys | |
| XM_006715564.2:c.477-7775G>T | XP_006715627.1:n.477-7775G>T | |
| XM_011536113.1:c.495G>T | XP_011534415.1:p.Trp165Cys | |
| XM_011536114.1:c.495G>T | XP_011534416.1:p.Trp165Cys | |
| XM_011536116.1:c.81G>T | XP_011534418.1:p.Trp27Cys | |
| NM_001360057.1:c.477-7775G>T | NP_001346986.1:n.477-7775G>T | |
| NM_001360064.1:c.81G>T | NP_001346993.1:p.Trp27Cys | |
| NM_001360071.1:c.81G>T | NP_001347000.1:p.Trp27Cys | |
| NR_153397.1:n.678G>T | ||
| NR_153398.1:n.290-7775G>T | ||
| XM_011536113.2:c.495G>T | XP_011534415.1:p.Trp165Cys | |
| XM_017011301.1:c.33G>T | XP_016866790.1:p.Trp11Cys | |
| XM_017011302.1:c.33G>T | XP_016866791.1:p.Trp11Cys | |
| XM_024446550.1:c.495G>T | XP_024302318.1:p.Trp165Cys | |
| XM_024446551.1:c.81G>T | XP_024302319.1:p.Trp27Cys | |
| NM_005670.4:c.495G>T MANE Select | NP_005661.1:p.Trp165Cys | |
| NM_001018041.2:c.495G>T | NP_001018051.1:p.Trp165Cys | |
| NM_001360057.2:c.477-7775G>T | NP_001346986.1:n.477-7775G>T | |
| NM_001360064.2:c.81G>T | NP_001346993.1:p.Trp27Cys | |
| NM_001360071.2:c.81G>T | NP_001347000.1:p.Trp27Cys | |
| NM_001368129.2:c.33G>T | NP_001355058.1:p.Trp11Cys | |
| NM_001368130.1:c.495G>T | NP_001355059.1:p.Trp165Cys | |
| NM_001368131.1:c.81G>T | NP_001355060.1:p.Trp27Cys | |
| NM_001368132.1:c.33G>T | NP_001355061.1:p.Trp11Cys | |
| NR_153398.2:n.292-7775G>T |