Linked Data
dbSNP Id:
rs2069391
gnomAD v2:
12-56359878-C-T
gnomAD v3:
12-55966094-C-T
gnomAD v4:
12-55966094-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55966094C>T , CM000674.2:g.55966094C>T | GRCh38 |
| NC_000012.11:g.56359878C>T , CM000674.1:g.56359878C>T | GRCh37 |
| NC_000012.10:g.54646145C>T | NCBI36 |
| NG_028086.1:g.5619G>A | |
| NG_034014.1:g.4326C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548493.5:c.-51-32G>A | ENSP00000447374.1:n.-51-32G>A | |
| ENST00000548689.5:n.32+584G>A | ||
| ENST00000548747.5:c.-83G>A | ENSP00000448828.1:n.-83G>A | |
| ENST00000549233.2:c.86-4362G>A | ENSP00000448871.1:n.86-4362G>A | |
| ENST00000549418.5:c.-51-32G>A | ENSP00000446633.1:n.-51-32G>A | |
| ENST00000549430.5:n.32+584G>A | ||
| ENST00000552882.5:c.-51-32G>A | ENSP00000449690.1:n.-51-32G>A | |
| NM_006928.4:c.-51-32G>A | NP_008859.1:n.-51-32G>A | |
| XM_006719569.1:c.-83G>A | XP_006719632.1:n.-83G>A | |
| XM_011538685.1:c.-51-32G>A | XP_011536987.1:n.-51-32G>A | |
| XM_011538686.1:c.-83G>A | XP_011536988.1:n.-83G>A | |
| XM_011538687.1:c.-83G>A | XP_011536989.1:n.-83G>A | |
| NM_006928.5:c.-51-32G>A | NP_008859.1:n.-51-32G>A |