Linked Data
dbSNP Id:
rs11650354
ExAC:
17:45822092 C / T
gnomAD v2:
17-45822092-C-T
gnomAD v3:
17-47744726-C-T
gnomAD v4:
17-47744726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744726C>T , CM000679.2:g.47744726C>T | GRCh38 |
| NC_000017.10:g.45822092C>T , CM000679.1:g.45822092C>T | GRCh37 |
| NC_000017.9:g.43177091C>T | NCBI36 |
| NG_012166.1:g.16483C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.990-22C>T MANE Select | ENSP00000177694.1:n.990-22C>T | |
| ENST00000177694.1:c.990-22C>T | ENSP00000177694.1:n.990-22C>T | |
| NM_013351.1:c.990-22C>T | NP_037483.1:n.990-22C>T | |
| XM_011524698.1:c.1053-22C>T | XP_011523000.1:n.1053-22C>T | |
| XM_011524699.1:c.657-22C>T | XP_011523001.1:n.657-22C>T | |
| NM_013351.2:c.990-22C>T MANE Select | NP_037483.1:n.990-22C>T |