Linked Data
ClinVar Variation Id:
127098
dbSNP Id:
rs587777323
ExAC:
2:74691832 G / A
gnomAD v2:
2-74691832-G-A
gnomAD v3:
2-74464705-G-A
gnomAD v4:
2-74464705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74464705G>A , CM000664.2:g.74464705G>A | GRCh38 |
| NC_000002.11:g.74691832G>A , CM000664.1:g.74691832G>A | GRCh37 |
| NC_000002.10:g.74545340G>A | NCBI36 |
| NG_008922.1:g.5706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690565.1:c.370C>T | ENSP00000510501.1:p.Gln124Ter | |
| ENST00000691308.1:c.370C>T | ENSP00000509583.1:p.Gln124Ter | |
| ENST00000448666.7:c.370C>T MANE Select | ENSP00000410992.3:p.Gln124Ter | |
| ENST00000452063.7:c.52C>T | ENSP00000388201.2:p.Gln18Ter | |
| ENST00000462443.2:c.-247+609C>T | ENSP00000497265.1:n.-247+609C>T | |
| ENST00000647723.1:c.368C>T | ||
| ENST00000647753.1:c.352+191C>T | ENSP00000497318.1:n.352+191C>T | |
| ENST00000647771.1:c.*48C>T | ENSP00000496788.1:n.*48C>T | |
| ENST00000647915.1:c.34+191C>T | ENSP00000498123.1:n.34+191C>T | |
| ENST00000648768.1:n.450C>T | ||
| ENST00000648810.1:c.-192+609C>T | ENSP00000496949.1:n.-192+609C>T | |
| ENST00000649075.1:c.370C>T | ENSP00000497836.1:p.Gln124Ter | |
| ENST00000649601.1:c.52C>T | ENSP00000496796.1:p.Gln18Ter | |
| ENST00000649777.1:n.579C>T | ||
| ENST00000649854.1:c.267+191C>T | ||
| ENST00000650523.1:c.370C>T | ENSP00000497143.1:p.Gln124Ter | |
| ENST00000233616.8:c.370C>T | ENSP00000233616.4:p.Gln124Ter | |
| ENST00000409065.5:c.370C>T | ENSP00000386493.1:p.Gln124Ter | |
| ENST00000414701.1:c.13C>T | ENSP00000396298.1:p.Gln5Ter | |
| ENST00000448666.5:c.52C>T | ENSP00000410992.1:p.Gln18Ter | |
| ENST00000452063.6:c.52C>T | ENSP00000388201.2:p.Gln18Ter | |
| ENST00000462443.1:n.97+609C>T | ||
| ENST00000486036.1:n.523C>T | ||
| NM_001146158.1:c.52C>T | NP_001139630.1:p.Gln18Ter | |
| NM_006302.2:c.370C>T | NP_006293.2:p.Gln124Ter | |
| NM_006302.3:c.370C>T MANE Select | NP_006293.2:p.Gln124Ter | |
| NM_001146158.2:c.52C>T | NP_001139630.1:p.Gln18Ter |