Linked Data
dbSNP Id:
rs10842759
gnomAD v2:
12-26765993-G-A
gnomAD v3:
12-26613060-G-A
gnomAD v4:
12-26613060-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26613060G>A , CM000674.2:g.26613060G>A | GRCh38 |
| NC_000012.11:g.26765993G>A , CM000674.1:g.26765993G>A | GRCh37 |
| NC_000012.10:g.26657260G>A | NCBI36 |
| NG_042142.1:g.225139C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381340.8:c.3462+8063C>T MANE Select | ENSP00000370744.3:n.3462+8063C>T | |
| ENST00000381340.7:c.3462+8063C>T | ENSP00000370744.3:n.3462+8063C>T | |
| NM_002223.2:c.3462+8063C>T | NP_002214.2:n.3462+8063C>T | |
| NM_002223.3:c.3462+8063C>T | NP_002214.2:n.3462+8063C>T | |
| XM_011520645.1:c.2910+8063C>T | XP_011518947.1:n.2910+8063C>T | |
| XM_011520646.1:c.2529+8063C>T | XP_011518948.1:n.2529+8063C>T | |
| XR_931288.1:n.3878+8063C>T | ||
| XM_017019266.1:c.3522+8063C>T | XP_016874755.1:n.3522+8063C>T | |
| XM_017019267.1:c.3456+8063C>T | XP_016874756.1:n.3456+8063C>T | |
| XM_017019269.2:c.3522+8063C>T | XP_016874758.1:n.3522+8063C>T | |
| XR_001748686.2:n.3938+8063C>T | ||
| XR_001748687.1:n.3938+8063C>T | ||
| NM_002223.4:c.3462+8063C>T MANE Select | NP_002214.2:n.3462+8063C>T |