Linked Data
dbSNP Id:
rs10490775
gnomAD v2:
3-62036724-C-T
gnomAD v3:
3-62051050-C-T
gnomAD v4:
3-62051050-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.62051050C>T , CM000665.2:g.62051050C>T | GRCh38 |
| NC_000003.11:g.62036724C>T , CM000665.1:g.62036724C>T | GRCh37 |
| NC_000003.10:g.62011764C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474889.6:c.520-27113C>T MANE Select | ENSP00000418112.1:n.520-27113C>T | |
| ENST00000295874.14:c.520-27113C>T | ENSP00000295874.10:n.520-27113C>T | |
| ENST00000474889.5:c.520-27113C>T | ENSP00000418112.1:n.520-27113C>T | |
| ENST00000615556.3:c.334-27113C>T | ENSP00000484346.1:n.334-27113C>T | |
| ENST00000618938.2:c.334-27113C>T | ENSP00000480407.1:n.334-27113C>T | |
| NM_002841.3:c.520-27113C>T | NP_002832.3:n.520-27113C>T | |
| XM_005265352.3:c.478-27113C>T | XP_005265409.1:n.478-27113C>T | |
| XM_005265353.3:c.520-27113C>T | XP_005265410.1:n.520-27113C>T | |
| XM_017006961.2:c.640-27113C>T | XP_016862450.1:n.640-27113C>T | |
| XM_017006962.1:c.559-27113C>T | XP_016862451.1:n.559-27113C>T | |
| XM_017006963.2:c.640-27113C>T | XP_016862452.1:n.640-27113C>T | |
| XM_017006964.1:c.172-27113C>T | XP_016862453.1:n.172-27113C>T | |
| NM_002841.4:c.520-27113C>T MANE Select | NP_002832.3:n.520-27113C>T | |
| NM_001375471.1:c.520-27113C>T | NP_001362400.1:n.520-27113C>T |