Linked Data
dbSNP Id:
rs4083482
gnomAD v2:
11-35351639-C-T
gnomAD v3:
11-35330092-C-T
gnomAD v4:
11-35330092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35330092C>T , CM000673.2:g.35330092C>T | GRCh38 |
| NC_000011.9:g.35351639C>T , CM000673.1:g.35351639C>T | GRCh37 |
| NC_000011.8:g.35308215C>T | NCBI36 |
| NG_008727.1:g.94467G>A | |
| NG_008727.2:g.94467G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278379.9:c.18-12576G>A MANE Select | ENSP00000278379.3:n.18-12576G>A | |
| ENST00000395750.6:c.6-12576G>A | ENSP00000379099.2:n.6-12576G>A | |
| ENST00000395753.6:c.-10-12576G>A | ENSP00000379102.1:n.-10-12576G>A | |
| ENST00000449068.2:c.18-12576G>A | ENSP00000406133.2:n.18-12576G>A | |
| ENST00000531628.2:c.18-12576G>A | ENSP00000436029.2:n.18-12576G>A | |
| ENST00000606205.6:c.18-12576G>A | ENSP00000476124.2:n.18-12576G>A | |
| ENST00000642171.1:c.18-12576G>A | ENSP00000495538.1:n.18-12576G>A | |
| ENST00000642183.1:n.280-12576G>A | ||
| ENST00000642224.1:n.307-12576G>A | ||
| ENST00000642392.1:n.90-12576G>A | ||
| ENST00000642448.1:n.110-12576G>A | ||
| ENST00000642578.1:c.-10-12576G>A | ENSP00000494076.1:n.-10-12576G>A | |
| ENST00000643000.1:c.-10-12576G>A | ENSP00000495164.1:n.-10-12576G>A | |
| ENST00000643134.1:c.18-12576G>A | ENSP00000495188.1:n.18-12576G>A | |
| ENST00000643154.1:n.598-12576G>A | ||
| ENST00000643305.1:c.18-12576G>A | ENSP00000494828.1:n.18-12576G>A | |
| ENST00000643401.1:c.34-7413G>A | ENSP00000493765.1:n.34-7413G>A | |
| ENST00000643454.1:c.9-12576G>A | ENSP00000495126.1:n.9-12576G>A | |
| ENST00000643522.1:c.18-12576G>A | ENSP00000496375.1:n.18-12576G>A | |
| ENST00000644050.1:c.-129-7413G>A | ENSP00000496123.1:n.-129-7413G>A | |
| ENST00000644299.1:c.-10-12576G>A | ENSP00000494669.1:n.-10-12576G>A | |
| ENST00000644351.1:c.18-12576G>A | ENSP00000496587.1:n.18-12576G>A | |
| ENST00000644459.1:c.18-12576G>A | ENSP00000495861.1:n.18-12576G>A | |
| ENST00000644779.1:c.-536-6783G>A | ENSP00000494258.1:n.-536-6783G>A | |
| ENST00000644868.1:c.9-12576G>A | ENSP00000496760.1:n.9-12576G>A | |
| ENST00000645194.1:c.-10-12576G>A | ENSP00000496093.1:n.-10-12576G>A | |
| ENST00000645303.1:c.33-12576G>A | ENSP00000496667.1:n.33-12576G>A | |
| ENST00000645634.1:c.-10-12576G>A | ENSP00000493945.1:n.-10-12576G>A | |
| ENST00000645892.1:n.123-12576G>A | ||
| ENST00000645966.1:c.-10-12576G>A | ENSP00000493762.1:n.-10-12576G>A | |
| ENST00000646080.1:c.9-12576G>A | ENSP00000494113.1:n.9-12576G>A | |
| ENST00000646099.1:c.6-12576G>A | ENSP00000495799.1:n.6-12576G>A | |
| ENST00000646112.1:n.100-12576G>A | ||
| ENST00000646585.1:n.173-12576G>A | ||
| ENST00000646847.1:c.18-12576G>A | ENSP00000493924.1:n.18-12576G>A | |
| ENST00000647104.1:c.-129-7413G>A | ENSP00000494025.1:n.-129-7413G>A | |
| ENST00000647372.1:c.-10-12576G>A | ENSP00000495277.1:n.-10-12576G>A | |
| ENST00000278379.7:c.18-12576G>A | ENSP00000278379.3:n.18-12576G>A | |
| ENST00000395750.5:c.-129-7413G>A | ENSP00000379099.1:n.-129-7413G>A | |
| ENST00000395753.5:c.-10-12576G>A | ENSP00000379102.1:n.-10-12576G>A | |
| ENST00000449068.1:c.6-12576G>A | ENSP00000406133.1:n.6-12576G>A | |
| ENST00000606205.5:c.18-12576G>A | ENSP00000476124.1:n.18-12576G>A | |
| NM_001195728.2:c.-129-7413G>A | NP_001182657.1:n.-129-7413G>A | |
| NM_001252652.1:c.-10-12576G>A | NP_001239581.1:n.-10-12576G>A | |
| NM_004171.3:c.18-12576G>A | NP_004162.2:n.18-12576G>A | |
| XM_005253067.1:c.9-12576G>A | XP_005253124.1:n.9-12576G>A | |
| XM_011520284.1:c.66-12576G>A | XP_011518586.1:n.66-12576G>A | |
| XM_011520285.1:c.6-12576G>A | XP_011518587.1:n.6-12576G>A | |
| XM_011520286.1:c.66-12576G>A | XP_011518588.1:n.66-12576G>A | |
| XM_011520287.1:c.66-12576G>A | XP_011518589.1:n.66-12576G>A | |
| XM_011520285.2:c.6-12576G>A | XP_011518587.1:n.6-12576G>A | |
| XM_017018136.1:c.33-12576G>A | XP_016873625.1:n.33-12576G>A | |
| XM_017018137.1:c.-10-12576G>A | XP_016873626.1:n.-10-12576G>A | |
| XM_017018138.1:c.-10-12576G>A | XP_016873627.1:n.-10-12576G>A | |
| XM_017018139.1:c.18-12576G>A | XP_016873628.1:n.18-12576G>A | |
| NM_004171.4:c.18-12576G>A MANE Select | NP_004162.2:n.18-12576G>A | |
| NM_001195728.3:c.-129-7413G>A | NP_001182657.1:n.-129-7413G>A | |
| NM_001252652.2:c.-10-12576G>A | NP_001239581.1:n.-10-12576G>A |