Linked Data
ClinVar Variation Id:
1090505
ClinVar RCV Id:
RCV001409689
dbSNP Id:
rs2151586302
MyVariant Identifiers:
chr16:g.89220614G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154206G>A , CM000678.2:g.89154206G>A | GRCh38 |
| NC_000016.9:g.89220614G>A , CM000678.1:g.89220614G>A | GRCh37 |
| NC_000016.8:g.87748115G>A | NCBI36 |
| NG_031961.1:g.65398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1730G>A | ENSP00000320646.4:p.Ter577= | |
| ENST00000614302.5:c.1730G>A MANE Select | ENSP00000479130.1:p.Ter577= | |
| ENST00000649953.1:c.1940G>A | ENSP00000497456.1:p.Ter647= | |
| ENST00000317447.8:c.1730G>A | ENSP00000320646.4:p.Ter577= | |
| ENST00000378345.8:c.935G>A | ENSP00000367596.4:p.Ter312= | |
| ENST00000393145.5:n.6640G>A | ||
| ENST00000406948.7:c.1730G>A | ENSP00000384627.3:p.Ter577= | |
| ENST00000537116.5:n.856G>A | ||
| ENST00000537155.1:n.470G>A | ||
| ENST00000542688.5:c.*474G>A | ENSP00000446281.1:n.*474G>A | |
| ENST00000614302.4:c.1730G>A | ENSP00000479130.1:p.Ter577= | |
| NM_001127214.3:c.1730G>A | NP_001120686.1:p.Ter577= | |
| NM_001243279.2:c.1730G>A | NP_001230208.1:p.Ter577= | |
| NM_001284316.1:c.935G>A | NP_001271245.1:p.Ter312= | |
| NM_174917.4:c.1730G>A | NP_777577.2:p.Ter577= | |
| NR_045667.2:n.856G>A | ||
| NR_104293.1:n.2164G>A | ||
| XR_933239.1:n.2171G>A | ||
| XR_933240.1:n.2168G>A | ||
| XR_933241.1:n.1925G>A | ||
| NR_147928.1:n.2208G>A | ||
| NR_147929.1:n.1962G>A | ||
| XM_017023020.2:c.-3375G>A | XP_016878509.1:n.-3375G>A | |
| XM_024450187.1:c.935G>A | XP_024305955.1:p.Ter312= | |
| XR_001751864.2:n.1977G>A | ||
| XR_933240.3:n.2167G>A | ||
| NM_001127214.4:c.1730G>A | NP_001120686.1:p.Ter577= | |
| NM_001243279.3:c.1730G>A MANE Select | NP_001230208.1:p.Ter577= | |
| NM_001284316.2:c.935G>A | NP_001271245.1:p.Ter312= | |
| NM_174917.5:c.1730G>A | NP_777577.2:p.Ter577= | |
| NR_104293.2:n.2121G>A | ||
| NR_147928.2:n.2165G>A | ||
| NR_147929.2:n.1919G>A |