Linked Data
dbSNP Id:
rs2270031
gnomAD v2:
12-1742509-C-G
gnomAD v3:
12-1633343-C-G
gnomAD v4:
12-1633343-C-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1633343C>G , CM000674.2:g.1633343C>G | GRCh38 |
| NC_000012.11:g.1742509C>G , CM000674.1:g.1742509C>G | GRCh37 |
| NC_000012.10:g.1612770C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397196.7:c.328+438C>G MANE Select | ENSP00000380379.2:n.328+438C>G | |
| ENST00000310594.7:c.328+438C>G | ENSP00000308887.3:n.328+438C>G | |
| ENST00000397196.6:c.328+438C>G | ENSP00000380379.2:n.328+438C>G | |
| ENST00000537031.5:c.328+438C>G | ENSP00000439312.1:n.328+438C>G | |
| ENST00000539198.5:c.328+438C>G | ENSP00000438414.1:n.328+438C>G | |
| ENST00000542408.1:c.328+438C>G | ENSP00000440600.1:n.328+438C>G | |
| ENST00000543071.5:c.328+438C>G | ENSP00000442348.1:n.328+438C>G | |
| ENST00000545811.5:c.328+438C>G | ENSP00000445395.1:n.328+438C>G | |
| NM_030775.2:c.328+438C>G | NP_110402.2:n.328+438C>G | |
| NM_032642.2:c.328+438C>G | NP_116031.1:n.328+438C>G | |
| XM_011521026.1:c.328+438C>G | XP_011519328.1:n.328+438C>G | |
| XM_024449203.1:c.484+438C>G | XP_024304971.1:n.484+438C>G | |
| XM_024449204.1:c.391+438C>G | XP_024304972.1:n.391+438C>G | |
| XM_024449205.1:c.328+438C>G | XP_024304973.1:n.328+438C>G | |
| XM_024449206.1:c.328+438C>G | XP_024304974.1:n.328+438C>G | |
| XM_024449207.1:c.328+438C>G | XP_024304975.1:n.328+438C>G | |
| XM_024449208.1:c.328+438C>G | XP_024304976.1:n.328+438C>G | |
| XM_024449209.1:c.328+438C>G | XP_024304977.1:n.328+438C>G | |
| NM_032642.3:c.328+438C>G MANE Select | NP_116031.1:n.328+438C>G |