Linked Data
dbSNP Id:
rs12870438
gnomAD v2:
13-43480205-G-A
gnomAD v3:
13-42906069-G-A
gnomAD v4:
13-42906069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42906069G>A , CM000675.2:g.42906069G>A | GRCh38 |
| NC_000013.10:g.43480205G>A , CM000675.1:g.43480205G>A | GRCh37 |
| NC_000013.9:g.42378205G>A | NCBI36 |
| NG_051573.1:g.91244C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313624.12:c.742-5686C>T MANE Select | ENSP00000318643.7:n.742-5686C>T | |
| ENST00000313624.11:c.742-5686C>T | ENSP00000318643.7:n.742-5686C>T | |
| ENST00000313640.11:c.775-5686C>T | ENSP00000318982.7:n.775-5686C>T | |
| ENST00000398762.7:c.775-5686C>T | ENSP00000381746.3:n.775-5686C>T | |
| ENST00000535677.5:n.412-5686C>T | ||
| ENST00000540470.5:n.2315-5686C>T | ||
| NM_001002264.2:c.775-5686C>T | NP_001002264.1:n.775-5686C>T | |
| NM_033255.3:c.742-5686C>T | NP_150280.1:n.742-5686C>T | |
| XM_005266596.1:c.742-5686C>T | XP_005266653.1:n.742-5686C>T | |
| XM_005266597.1:c.775-5686C>T | XP_005266654.1:n.775-5686C>T | |
| XM_006719896.2:c.775-5686C>T | XP_006719959.1:n.775-5686C>T | |
| XM_011535311.1:c.775-5686C>T | XP_011533613.1:n.775-5686C>T | |
| XM_011535312.1:c.394-5686C>T | XP_011533614.1:n.394-5686C>T | |
| XM_011535313.1:c.394-5686C>T | XP_011533615.1:n.394-5686C>T | |
| XM_011535314.1:c.229-5686C>T | XP_011533616.1:n.229-5686C>T | |
| NM_001002264.3:c.775-5686C>T | NP_001002264.1:n.775-5686C>T | |
| NM_001330543.1:c.775-5686C>T | NP_001317472.1:n.775-5686C>T | |
| NM_001331228.1:c.361-5686C>T | NP_001318157.1:n.361-5686C>T | |
| NM_033255.4:c.742-5686C>T | NP_150280.1:n.742-5686C>T | |
| XM_006719896.4:c.775-5686C>T | XP_006719959.1:n.775-5686C>T | |
| XM_011535312.2:c.394-5686C>T | XP_011533614.1:n.394-5686C>T | |
| XM_017020853.2:c.394-5686C>T | XP_016876342.1:n.394-5686C>T | |
| XM_017020854.1:c.394-5686C>T | XP_016876343.1:n.394-5686C>T | |
| XM_017020855.2:c.394-5686C>T | XP_016876344.1:n.394-5686C>T | |
| NM_001002264.4:c.775-5686C>T | NP_001002264.1:n.775-5686C>T | |
| NM_001330543.2:c.775-5686C>T | NP_001317472.1:n.775-5686C>T | |
| NM_001331228.2:c.361-5686C>T | NP_001318157.1:n.361-5686C>T | |
| NM_033255.5:c.742-5686C>T MANE Select | NP_150280.1:n.742-5686C>T |