Linked Data
dbSNP Id:
rs1416836474
gnomAD v2:
16-89220608-C-A
gnomAD v3:
16-89154200-C-A
gnomAD v4:
16-89154200-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154200C>A , CM000678.2:g.89154200C>A | GRCh38 |
| NC_000016.9:g.89220608C>A , CM000678.1:g.89220608C>A | GRCh37 |
| NC_000016.8:g.87748109C>A | NCBI36 |
| NG_031961.1:g.65392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1724C>A | ENSP00000320646.4:p.Pro575His | |
| ENST00000614302.5:c.1724C>A MANE Select | ENSP00000479130.1:p.Pro575His | |
| ENST00000649953.1:c.1934C>A | ENSP00000497456.1:p.Pro645His | |
| ENST00000317447.8:c.1724C>A | ENSP00000320646.4:p.Pro575His | |
| ENST00000378345.8:c.929C>A | ENSP00000367596.4:p.Pro310His | |
| ENST00000393145.5:n.6634C>A | ||
| ENST00000406948.7:c.1724C>A | ENSP00000384627.3:p.Pro575His | |
| ENST00000537116.5:n.850C>A | ||
| ENST00000537155.1:n.464C>A | ||
| ENST00000542688.5:c.*468C>A | ENSP00000446281.1:n.*468C>A | |
| ENST00000614302.4:c.1724C>A | ENSP00000479130.1:p.Pro575His | |
| NM_001127214.3:c.1724C>A | NP_001120686.1:p.Pro575His | |
| NM_001243279.2:c.1724C>A | NP_001230208.1:p.Pro575His | |
| NM_001284316.1:c.929C>A | NP_001271245.1:p.Pro310His | |
| NM_174917.4:c.1724C>A | NP_777577.2:p.Pro575His | |
| NR_045667.2:n.850C>A | ||
| NR_104293.1:n.2158C>A | ||
| XR_933239.1:n.2165C>A | ||
| XR_933240.1:n.2162C>A | ||
| XR_933241.1:n.1919C>A | ||
| NR_147928.1:n.2202C>A | ||
| NR_147929.1:n.1956C>A | ||
| XM_017023020.2:c.-3381C>A | XP_016878509.1:n.-3381C>A | |
| XM_024450187.1:c.929C>A | XP_024305955.1:p.Pro310His | |
| XR_001751864.2:n.1971C>A | ||
| XR_933240.3:n.2161C>A | ||
| NM_001127214.4:c.1724C>A | NP_001120686.1:p.Pro575His | |
| NM_001243279.3:c.1724C>A MANE Select | NP_001230208.1:p.Pro575His | |
| NM_001284316.2:c.929C>A | NP_001271245.1:p.Pro310His | |
| NM_174917.5:c.1724C>A | NP_777577.2:p.Pro575His | |
| NR_104293.2:n.2115C>A | ||
| NR_147928.2:n.2159C>A | ||
| NR_147929.2:n.1913C>A |