Linked Data
dbSNP Id:
rs1172212652
gnomAD v2:
15-98504080-T-A
gnomAD v3:
15-97960850-T-A
gnomAD v4:
15-97960850-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960850T>A , CM000677.2:g.97960850T>A | GRCh38 |
| NC_000015.9:g.98504080T>A , CM000677.1:g.98504080T>A | GRCh37 |
| NC_000015.8:g.96305084T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.-12T>A MANE Select | ENSP00000268042.6:n.-12T>A | |
| ENST00000268042.6:c.-12T>A | ENSP00000268042.6:n.-12T>A | |
| NM_183376.2:c.-12T>A | NP_899232.2:n.-12T>A | |
| NM_183376.3:c.-12T>A MANE Select | NP_899232.2:n.-12T>A |