Linked Data
dbSNP Id:
rs371396538
ExAC:
12:110006535 G / C
gnomAD v2:
12-110006535-G-C
gnomAD v3:
12-109568730-G-C
gnomAD v4:
12-109568730-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568730G>C , CM000674.2:g.109568730G>C | GRCh38 |
| NC_000012.11:g.110006535G>C , CM000674.1:g.110006535G>C | GRCh37 |
| NC_000012.10:g.108490918G>C | NCBI36 |
| NG_007096.1:g.9768C>G | |
| NG_007702.1:g.36G>C , LRG_156:g.36G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.290+40C>G MANE Select | ENSP00000445920.1:n.290+40C>G | |
| ENST00000420167.6:c.*119+40C>G | ENSP00000416136.2:n.*119+40C>G | |
| ENST00000503497.7:c.290+40C>G | ENSP00000474881.1:n.290+40C>G | |
| ENST00000536760.1:n.293+40C>G | ||
| ENST00000537236.2:c.*36C>G | ENSP00000483818.1:n.*36C>G | |
| ENST00000537496.5:c.290+40C>G | ENSP00000444793.1:n.290+40C>G | |
| ENST00000540016.5:c.135-3554C>G | ENSP00000474582.1:n.135-3554C>G | |
| ENST00000541763.6:c.290+40C>G | ENSP00000474981.1:n.290+40C>G | |
| ENST00000542390.5:n.317+40C>G | ||
| ENST00000544051.5:c.*84+40C>G | ENSP00000438079.1:n.*84+40C>G | |
| ENST00000545712.6:c.290+40C>G | ENSP00000445920.1:n.290+40C>G | |
| NM_052845.3:c.290+40C>G | NP_443077.1:n.290+40C>G | |
| NR_038118.1:n.363+40C>G | ||
| XM_011538266.1:c.-428C>G | XP_011536568.1:n.-428C>G | |
| XM_011538267.1:c.-317C>G | XP_011536569.1:n.-317C>G | |
| XM_011538269.1:c.-462C>G | XP_011536571.1:n.-462C>G | |
| XM_011538267.3:c.-317C>G | XP_011536569.1:n.-317C>G | |
| XM_011538269.2:c.-462C>G | XP_011536571.1:n.-462C>G | |
| XM_024448961.1:c.290+40C>G | XP_024304729.1:n.290+40C>G | |
| NM_052845.4:c.290+40C>G MANE Select | NP_443077.1:n.290+40C>G | |
| NR_038118.2:n.314+40C>G |