Linked Data
dbSNP Id:
rs765994520
ExAC:
17:45811250 C / T
gnomAD v2:
17-45811250-C-T
gnomAD v4:
17-47733884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733884C>T , CM000679.2:g.47733884C>T | GRCh38 |
| NC_000017.10:g.45811250C>T , CM000679.1:g.45811250C>T | GRCh37 |
| NC_000017.9:g.43166249C>T | NCBI36 |
| NG_012166.1:g.5641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.430C>T MANE Select | ENSP00000177694.1:p.His144Tyr | |
| ENST00000177694.1:c.430C>T | ENSP00000177694.1:p.His144Tyr | |
| ENST00000581328.1:n.460C>T | ||
| NM_013351.1:c.430C>T | NP_037483.1:p.His144Tyr | |
| XM_011524698.1:c.430C>T | XP_011523000.1:p.His144Tyr | |
| NM_013351.2:c.430C>T MANE Select | NP_037483.1:p.His144Tyr |