Linked Data
dbSNP Id:
rs140747247
ExAC:
15:75042651 A / C
gnomAD v2:
15-75042651-A-C
gnomAD v3:
15-74750310-A-C
gnomAD v4:
15-74750310-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750310A>C , CM000677.2:g.74750310A>C | GRCh38 |
| NC_000015.9:g.75042651A>C , CM000677.1:g.75042651A>C | GRCh37 |
| NC_000015.8:g.72829704A>C | NCBI36 |
| NG_008431.1:g.32769A>C | |
| NG_008431.2:g.32769A>C | |
| NG_061543.1:g.6466A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.572A>C MANE Select | ENSP00000342007.4:p.Gln191Pro | |
| ENST00000343932.4:c.572A>C | ENSP00000342007.4:p.Gln191Pro | |
| NM_000761.4:c.572A>C | NP_000752.2:p.Gln191Pro | |
| NM_000761.5:c.572A>C MANE Select | NP_000752.2:p.Gln191Pro |