Linked Data
dbSNP Id:
rs373063172
ExAC:
15:43250189 T / C
gnomAD v2:
15-43250189-T-C
gnomAD v3:
15-42957991-T-C
gnomAD v4:
15-42957991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42957991T>C , CM000677.2:g.42957991T>C | GRCh38 |
| NC_000015.9:g.43250189T>C , CM000677.1:g.43250189T>C | GRCh37 |
| NC_000015.8:g.41037481T>C | NCBI36 |
| NG_012182.1:g.153098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4835+22A>G MANE Select | ENSP00000290650.4:n.4835+22A>G | |
| ENST00000290650.8:c.4835+22A>G | ENSP00000290650.4:n.4835+22A>G | |
| NM_174916.2:c.4835+22A>G | NP_777576.1:n.4835+22A>G | |
| NM_174916.3:c.4835+22A>G MANE Select | NP_777576.1:n.4835+22A>G |