Linked Data
ClinVar Variation Id:
380032
dbSNP Id:
rs142414537
ExAC:
19:41209674 C / T
gnomAD v2:
19-41209674-C-T
gnomAD v3:
19-40703769-C-T
gnomAD v4:
19-40703769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40703769C>T , CM000681.2:g.40703769C>T | GRCh38 |
| NC_000019.9:g.41209674C>T , CM000681.1:g.41209674C>T | GRCh37 |
| NC_000019.8:g.45901514C>T | NCBI36 |
| NG_027800.1:g.18117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.663G>A MANE Select | ENSP00000315118.3:p.Gly221= | |
| ENST00000593724.2:n.393-147G>A | ||
| ENST00000594490.6:c.585G>A | ENSP00000471310.2:p.Gly195= | |
| ENST00000594720.6:c.663G>A | ENSP00000470876.2:p.Gly221= | |
| ENST00000596455.6:n.955G>A | ||
| ENST00000601967.6:c.663G>A | ENSP00000470916.2:p.Gly221= | |
| ENST00000676555.1:c.663G>A | ENSP00000503387.1:p.Gly221= | |
| ENST00000676578.1:c.*405G>A | ENSP00000504076.1:n.*405G>A | |
| ENST00000676960.1:n.788G>A | ||
| ENST00000676962.1:n.942G>A | ||
| ENST00000677018.1:c.663G>A | ENSP00000503480.1:p.Gly221= | |
| ENST00000677039.1:n.718G>A | ||
| ENST00000677399.1:n.1105G>A | ||
| ENST00000677496.1:c.336G>A | ENSP00000504773.1:p.Gly112= | |
| ENST00000677517.1:c.336G>A | ENSP00000503519.1:p.Gly112= | |
| ENST00000677633.1:c.*86G>A | ENSP00000503645.1:n.*86G>A | |
| ENST00000677800.1:c.*3767G>A | ENSP00000503794.1:n.*3767G>A | |
| ENST00000678057.1:c.*227G>A | ENSP00000503762.1:n.*227G>A | |
| ENST00000678119.1:n.857G>A | ||
| ENST00000678166.1:n.861-147G>A | ||
| ENST00000678312.1:n.1000G>A | ||
| ENST00000678316.1:c.*86G>A | ENSP00000504112.1:n.*86G>A | |
| ENST00000678371.1:n.1021G>A | ||
| ENST00000678404.1:c.663G>A | ENSP00000503944.1:p.Gly221= | |
| ENST00000678419.1:c.663G>A | ENSP00000504085.1:p.Gly221= | |
| ENST00000678433.1:n.1023G>A | ||
| ENST00000678467.1:c.663G>A | ENSP00000504072.1:p.Gly221= | |
| ENST00000678569.1:c.663G>A | ENSP00000504261.1:p.Gly221= | |
| ENST00000678961.1:n.846G>A | ||
| ENST00000679002.1:n.842G>A | ||
| ENST00000679012.1:c.219G>A | ENSP00000504446.1:p.Gly73= | |
| ENST00000679070.1:c.*86G>A | ENSP00000503759.1:n.*86G>A | |
| ENST00000679130.1:c.663G>A | ENSP00000504845.1:p.Gly221= | |
| ENST00000679315.1:c.*493G>A | ENSP00000503065.1:n.*493G>A | |
| ENST00000243583.10:c.540G>A | ENSP00000243583.5:p.Gly180= | |
| ENST00000324464.7:c.663G>A | ENSP00000315118.3:p.Gly221= | |
| ENST00000595254.5:c.336G>A | ENSP00000470894.1:p.Gly112= | |
| ENST00000596455.5:n.783G>A | ||
| ENST00000599643.5:c.336-147G>A | ENSP00000471192.1:n.336-147G>A | |
| ENST00000601304.5:c.*437G>A | ENSP00000472519.1:n.*437G>A | |
| ENST00000601967.5:c.663G>A | ENSP00000470916.1:p.Gly221= | |
| NM_001142555.2:c.540G>A | NP_001136027.1:p.Gly180= | |
| NM_024876.3:c.663G>A | NP_079152.3:p.Gly221= | |
| XM_005259270.3:c.825G>A | XP_005259327.2:p.Gly275= | |
| XM_005259271.3:c.663G>A | XP_005259328.1:p.Gly221= | |
| XM_005259272.3:c.663G>A | XP_005259329.1:p.Gly221= | |
| XM_005259273.3:c.663G>A | XP_005259330.1:p.Gly221= | |
| XM_006723392.2:c.663G>A | XP_006723455.1:p.Gly221= | |
| XM_006723393.2:c.663G>A | XP_006723456.1:p.Gly221= | |
| XM_011527334.1:c.663G>A | XP_011525636.1:p.Gly221= | |
| XM_011527335.1:c.577-147G>A | XP_011525637.1:n.577-147G>A | |
| XM_011527336.1:c.693G>A | XP_011525638.1:p.Gly231= | |
| XM_011527337.1:c.663G>A | XP_011525639.1:p.Gly221= | |
| XM_011527338.1:c.663G>A | XP_011525640.1:p.Gly221= | |
| NM_024876.4:c.663G>A MANE Select | NP_079152.3:p.Gly221= | |
| NM_001142555.3:c.540G>A | NP_001136027.1:p.Gly180= |