Linked Data
dbSNP Id:
rs911570704
gnomAD v2:
16-89220517-G-A
gnomAD v3:
16-89154109-G-A
gnomAD v4:
16-89154109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154109G>A , CM000678.2:g.89154109G>A | GRCh38 |
| NC_000016.9:g.89220517G>A , CM000678.1:g.89220517G>A | GRCh37 |
| NC_000016.8:g.87748018G>A | NCBI36 |
| NG_031961.1:g.65301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1633G>A | ENSP00000320646.4:p.Ala545Thr | |
| ENST00000614302.5:c.1633G>A MANE Select | ENSP00000479130.1:p.Ala545Thr | |
| ENST00000649953.1:c.1843G>A | ENSP00000497456.1:p.Ala615Thr | |
| ENST00000317447.8:c.1633G>A | ENSP00000320646.4:p.Ala545Thr | |
| ENST00000378345.8:c.838G>A | ENSP00000367596.4:p.Ala280Thr | |
| ENST00000393145.5:n.6543G>A | ||
| ENST00000406948.7:c.1633G>A | ENSP00000384627.3:p.Ala545Thr | |
| ENST00000537116.5:n.759G>A | ||
| ENST00000537155.1:n.373G>A | ||
| ENST00000542688.5:c.*377G>A | ENSP00000446281.1:n.*377G>A | |
| ENST00000614302.4:c.1633G>A | ENSP00000479130.1:p.Ala545Thr | |
| NM_001127214.3:c.1633G>A | NP_001120686.1:p.Ala545Thr | |
| NM_001243279.2:c.1633G>A | NP_001230208.1:p.Ala545Thr | |
| NM_001284316.1:c.838G>A | NP_001271245.1:p.Ala280Thr | |
| NM_174917.4:c.1633G>A | NP_777577.2:p.Ala545Thr | |
| NR_045667.2:n.759G>A | ||
| NR_104293.1:n.2067G>A | ||
| XR_933239.1:n.2074G>A | ||
| XR_933240.1:n.2071G>A | ||
| XR_933241.1:n.1828G>A | ||
| NR_147928.1:n.2111G>A | ||
| NR_147929.1:n.1865G>A | ||
| XM_017023020.2:c.-3472G>A | XP_016878509.1:n.-3472G>A | |
| XM_024450187.1:c.838G>A | XP_024305955.1:p.Ala280Thr | |
| XR_001751864.2:n.1880G>A | ||
| XR_933240.3:n.2070G>A | ||
| NM_001127214.4:c.1633G>A | NP_001120686.1:p.Ala545Thr | |
| NM_001243279.3:c.1633G>A MANE Select | NP_001230208.1:p.Ala545Thr | |
| NM_001284316.2:c.838G>A | NP_001271245.1:p.Ala280Thr | |
| NM_174917.5:c.1633G>A | NP_777577.2:p.Ala545Thr | |
| NR_104293.2:n.2024G>A | ||
| NR_147928.2:n.2068G>A | ||
| NR_147929.2:n.1822G>A |