Linked Data
dbSNP Id:
rs1060402
gnomAD v2:
20-49205095-G-A
gnomAD v3:
20-50588558-G-A
gnomAD v4:
20-50588558-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50588558G>A , CM000682.2:g.50588558G>A | GRCh38 |
| NC_000020.10:g.49205095G>A , CM000682.1:g.49205095G>A | GRCh37 |
| NC_000020.9:g.48638502G>A | NCBI36 |
| NG_034040.1:g.107973C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327979.8:c.2662-666C>T MANE Select | ENSP00000332663.3:n.2662-666C>T | |
| ENST00000045083.6:c.2650-666C>T | ENSP00000045083.2:n.2650-666C>T | |
| ENST00000327979.6:c.2650-666C>T | ENSP00000332663.2:n.2650-666C>T | |
| ENST00000462842.1:n.328-666C>T | ||
| NM_001290268.1:c.2662-666C>T | NP_001277197.1:n.2662-666C>T | |
| NM_080829.3:c.2650-666C>T | NP_543019.2:n.2650-666C>T | |
| NR_110890.1:n.3223-666C>T | ||
| XM_005260294.3:c.2662-666C>T | XP_005260351.1:n.2662-666C>T | |
| XM_006723713.2:c.2647-666C>T | XP_006723776.1:n.2647-666C>T | |
| XM_011528578.1:c.2662-666C>T | XP_011526880.1:n.2662-666C>T | |
| XM_011528579.1:c.2650-666C>T | XP_011526881.1:n.2650-666C>T | |
| XM_011528580.1:c.2650-666C>T | XP_011526882.1:n.2650-666C>T | |
| XM_011528581.1:c.2650-666C>T | XP_011526883.1:n.2650-666C>T | |
| XM_011528582.1:c.1972-666C>T | XP_011526884.1:n.1972-666C>T | |
| XM_011528585.1:c.1651-666C>T | XP_011526887.1:n.1651-666C>T | |
| XM_006723713.4:c.2647-666C>T | XP_006723776.1:n.2647-666C>T | |
| XM_011528578.2:c.2662-666C>T | XP_011526880.1:n.2662-666C>T | |
| XM_011528579.2:c.2650-666C>T | XP_011526881.1:n.2650-666C>T | |
| XM_011528580.2:c.2650-666C>T | XP_011526882.1:n.2650-666C>T | |
| XM_011528581.2:c.2650-666C>T | XP_011526883.1:n.2650-666C>T | |
| XM_011528585.2:c.1651-666C>T | XP_011526887.1:n.1651-666C>T | |
| XM_017027681.1:c.1972-666C>T | XP_016883170.1:n.1972-666C>T | |
| XR_001754183.1:n.3513-666C>T | ||
| NM_001290268.2:c.2662-666C>T MANE Select | NP_001277197.1:n.2662-666C>T | |
| NR_110890.2:n.3235-666C>T | ||
| NM_080829.4:c.2650-666C>T | NP_543019.2:n.2650-666C>T |