Linked Data
ClinVar Variation Id:
205435
ClinVar RCV Id:
RCV000187396
RCV000720116
RCV000727316
RCV001084331
RCV001331453
RCV002317095
RCV003967473
dbSNP Id:
rs146321088
ExAC:
6:145948826 C / T
gnomAD v2:
6-145948826-C-T
gnomAD v3:
6-145627690-C-T
gnomAD v4:
6-145627690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145627690C>T , CM000668.2:g.145627690C>T | GRCh38 |
| NC_000006.11:g.145948826C>T , CM000668.1:g.145948826C>T | GRCh37 |
| NC_000006.10:g.145990519C>T | NCBI36 |
| NG_012832.1:g.113166G>A | |
| NG_012832.2:g.113166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.722G>A MANE Select | ENSP00000356489.3:p.Arg241Gln | |
| ENST00000435470.2:c.722G>A | ENSP00000405913.2:p.Arg241Gln | |
| ENST00000450221.6:c.340+7555G>A | ENSP00000414900.2:n.340+7555G>A | |
| ENST00000611340.5:c.308G>A | ENSP00000480268.1:p.Arg103Gln | |
| ENST00000638262.1:c.480G>A | ENSP00000492876.1:p.Pro160= | |
| ENST00000638554.1:c.661G>A | ENSP00000492823.1:n.661G>A | |
| ENST00000638597.1:n.179G>A | ||
| ENST00000638717.1:c.501+7555G>A | ||
| ENST00000638778.1:c.308G>A | ENSP00000491353.1:p.Arg103Gln | |
| ENST00000638783.1:c.308G>A | ENSP00000491338.1:p.Arg103Gln | |
| ENST00000639049.1:c.949G>A | ||
| ENST00000639106.1:n.4634G>A | ||
| ENST00000639423.1:c.308G>A | ENSP00000492701.1:p.Arg103Gln | |
| ENST00000639465.1:c.308G>A | ENSP00000491180.1:p.Arg103Gln | |
| ENST00000639648.1:n.303G>A | ||
| ENST00000639799.1:n.1263G>A | ||
| ENST00000639859.1:n.6046G>A | ||
| ENST00000640225.1:c.*256G>A | ENSP00000492179.1:n.*256G>A | |
| ENST00000640351.1:c.458G>A | ||
| ENST00000640980.1:c.66G>A | ENSP00000491191.1:p.Pro22= | |
| ENST00000367519.7:c.722G>A | ENSP00000356489.3:p.Arg241Gln | |
| ENST00000435470.1:c.481G>A | ||
| ENST00000450221.5:c.417+7555G>A | ||
| ENST00000611340.4:c.308G>A | ENSP00000480268.1:p.Arg103Gln | |
| ENST00000618445.4:c.722G>A | ENSP00000480339.1:p.Arg241Gln | |
| NM_001018041.1:c.722G>A | NP_001018051.1:p.Arg241Gln | |
| NM_005670.3:c.722G>A | NP_005661.1:p.Arg241Gln | |
| XM_006715564.2:c.480G>A | XP_006715627.1:p.Pro160= | |
| XM_011536113.1:c.718+7555G>A | XP_011534415.1:n.718+7555G>A | |
| XM_011536114.1:c.718+7555G>A | XP_011534416.1:n.718+7555G>A | |
| XM_011536116.1:c.308G>A | XP_011534418.1:p.Arg103Gln | |
| NM_001360057.1:c.480G>A | NP_001346986.1:p.Pro160= | |
| NM_001360064.1:c.308G>A | NP_001346993.1:p.Arg103Gln | |
| NM_001360071.1:c.308G>A | NP_001347000.1:p.Arg103Gln | |
| NR_153397.1:n.905G>A | ||
| NR_153398.1:n.293G>A | ||
| XM_011536113.2:c.718+7555G>A | XP_011534415.1:n.718+7555G>A | |
| XM_017011301.1:c.260G>A | XP_016866790.1:p.Arg87Gln | |
| XM_017011302.1:c.260G>A | XP_016866791.1:p.Arg87Gln | |
| XM_024446550.1:c.718+7555G>A | XP_024302318.1:n.718+7555G>A | |
| XM_024446551.1:c.308G>A | XP_024302319.1:p.Arg103Gln | |
| NM_005670.4:c.722G>A MANE Select | NP_005661.1:p.Arg241Gln | |
| NM_001018041.2:c.722G>A | NP_001018051.1:p.Arg241Gln | |
| NM_001360057.2:c.480G>A | NP_001346986.1:p.Pro160= | |
| NM_001360064.2:c.308G>A | NP_001346993.1:p.Arg103Gln | |
| NM_001360071.2:c.308G>A | NP_001347000.1:p.Arg103Gln | |
| NM_001368129.2:c.260G>A | NP_001355058.1:p.Arg87Gln | |
| NM_001368131.1:c.308G>A | NP_001355060.1:p.Arg103Gln | |
| NM_001368132.1:c.260G>A | NP_001355061.1:p.Arg87Gln | |
| NR_153398.2:n.295G>A |