Linked Data
dbSNP Id:
rs888549629
gnomAD v2:
14-80669821-G-A
gnomAD v3:
14-80203478-G-A
gnomAD v4:
14-80203478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203478G>A , CM000676.2:g.80203478G>A | GRCh38 |
| NC_000014.8:g.80669821G>A , CM000676.1:g.80669821G>A | GRCh37 |
| NC_000014.7:g.79739574G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.223-190C>T MANE Select | ENSP00000405854.5:n.223-190C>T | |
| ENST00000555750.2:c.*61-190C>T | ENSP00000450980.2:n.*61-190C>T | |
| ENST00000422005.7:c.*24-190C>T | ENSP00000411438.4:n.*24-190C>T | |
| ENST00000438257.8:c.223-190C>T | ENSP00000405854.4:n.223-190C>T | |
| ENST00000555750.1:c.331-190C>T | ENSP00000450980.1:n.331-190C>T | |
| ENST00000555844.1:c.307-190C>T | ||
| ENST00000556811.5:c.199-190C>T | ||
| ENST00000557010.5:c.223-190C>T | ENSP00000451419.1:n.223-190C>T | |
| ENST00000557125.1:c.49-392C>T | ENSP00000450547.1:n.49-392C>T | |
| NM_000793.5:c.223-190C>T | NP_000784.2:n.223-190C>T | |
| NM_001007023.3:c.331-190C>T | NP_001007024.1:n.331-190C>T | |
| NM_001242502.1:c.*24-190C>T | NP_001229431.1:n.*24-190C>T | |
| NM_001242503.1:c.*24-190C>T | NP_001229432.1:n.*24-190C>T | |
| NM_013989.4:c.223-190C>T | NP_054644.1:n.223-190C>T | |
| NM_000793.6:c.223-190C>T | NP_000784.3:n.223-190C>T | |
| NM_001324462.2:c.223-190C>T | NP_001311391.2:n.223-190C>T | |
| NM_001366496.1:c.223-190C>T | NP_001353425.1:n.223-190C>T | |
| NM_013989.5:c.223-190C>T MANE Select | NP_054644.1:n.223-190C>T | |
| NR_158990.1:n.363-190C>T | ||
| NR_158991.1:n.497-190C>T |