Linked Data
ClinVar Variation Id:
1132887
ClinVar RCV Id:
RCV001467298
dbSNP Id:
rs2151562665
gnomAD v4:
16-89145349-G-A
MyVariant Identifiers:
chr16:g.89211757G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89145349G>A , CM000678.2:g.89145349G>A | GRCh38 |
| NC_000016.9:g.89211757G>A , CM000678.1:g.89211757G>A | GRCh37 |
| NC_000016.8:g.87739258G>A | NCBI36 |
| NG_031961.1:g.56541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1449G>A | ENSP00000320646.4:p.Lys483= | |
| ENST00000614302.5:c.1449G>A MANE Select | ENSP00000479130.1:p.Lys483= | |
| ENST00000649953.1:c.1659G>A | ENSP00000497456.1:p.Lys553= | |
| ENST00000317447.8:c.1449G>A | ENSP00000320646.4:p.Lys483= | |
| ENST00000378345.8:c.654G>A | ENSP00000367596.4:p.Lys218= | |
| ENST00000406948.7:c.1449G>A | ENSP00000384627.3:p.Lys483= | |
| ENST00000537116.5:n.575G>A | ||
| ENST00000537155.1:n.189G>A | ||
| ENST00000542688.5:c.*193G>A | ENSP00000446281.1:n.*193G>A | |
| ENST00000544543.5:c.654G>A | ENSP00000442781.1:p.Lys218= | |
| ENST00000562204.1:n.422G>A | ||
| ENST00000614302.4:c.1449G>A | ENSP00000479130.1:p.Lys483= | |
| NM_001127214.3:c.1449G>A | NP_001120686.1:p.Lys483= | |
| NM_001243279.2:c.1449G>A | NP_001230208.1:p.Lys483= | |
| NM_001284316.1:c.654G>A | NP_001271245.1:p.Lys218= | |
| NM_174917.4:c.1449G>A | NP_777577.2:p.Lys483= | |
| NR_045667.2:n.575G>A | ||
| NR_104293.1:n.1883G>A | ||
| XM_005256293.1:c.1449G>A | XP_005256350.1:p.Lys483= | |
| XM_011522942.1:c.1449G>A | XP_011521244.1:p.Lys483= | |
| XM_011522943.1:c.1449G>A | XP_011521245.1:p.Lys483= | |
| XR_933239.1:n.1890G>A | ||
| XR_933240.1:n.1887G>A | ||
| XR_933241.1:n.1644G>A | ||
| NR_147928.1:n.1927G>A | ||
| NR_147929.1:n.1681G>A | ||
| XM_005256293.2:c.1449G>A | XP_005256350.1:p.Lys483= | |
| XM_017023018.1:c.1449G>A | XP_016878507.1:p.Lys483= | |
| XM_017023019.1:c.1449G>A | XP_016878508.1:p.Lys483= | |
| XM_017023020.2:c.-3656G>A | XP_016878509.1:n.-3656G>A | |
| XM_017023022.1:c.582G>A | XP_016878511.1:p.Lys194= | |
| XM_024450186.1:c.654G>A | XP_024305954.1:p.Lys218= | |
| XM_024450187.1:c.654G>A | XP_024305955.1:p.Lys218= | |
| XR_001751864.2:n.1696G>A | ||
| XR_001751865.1:n.1643G>A | ||
| XR_933240.3:n.1886G>A | ||
| NM_001127214.4:c.1449G>A | NP_001120686.1:p.Lys483= | |
| NM_001243279.3:c.1449G>A MANE Select | NP_001230208.1:p.Lys483= | |
| NM_001284316.2:c.654G>A | NP_001271245.1:p.Lys218= | |
| NM_174917.5:c.1449G>A | NP_777577.2:p.Lys483= | |
| NR_104293.2:n.1840G>A | ||
| NR_147928.2:n.1884G>A | ||
| NR_147929.2:n.1638G>A |