Linked Data
ClinVar Variation Id:
1589936
ClinVar RCV Id:
RCV002119512
dbSNP Id:
rs1914461577
gnomAD v4:
16-89154195-C-T
MyVariant Identifiers:
chr16:g.89220603C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154195C>T , CM000678.2:g.89154195C>T | GRCh38 |
| NC_000016.9:g.89220603C>T , CM000678.1:g.89220603C>T | GRCh37 |
| NC_000016.8:g.87748104C>T | NCBI36 |
| NG_031961.1:g.65387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1719C>T | ENSP00000320646.4:p.Phe573= | |
| ENST00000614302.5:c.1719C>T MANE Select | ENSP00000479130.1:p.Phe573= | |
| ENST00000649953.1:c.1929C>T | ENSP00000497456.1:p.Phe643= | |
| ENST00000317447.8:c.1719C>T | ENSP00000320646.4:p.Phe573= | |
| ENST00000378345.8:c.924C>T | ENSP00000367596.4:p.Phe308= | |
| ENST00000393145.5:n.6629C>T | ||
| ENST00000406948.7:c.1719C>T | ENSP00000384627.3:p.Phe573= | |
| ENST00000537116.5:n.845C>T | ||
| ENST00000537155.1:n.459C>T | ||
| ENST00000542688.5:c.*463C>T | ENSP00000446281.1:n.*463C>T | |
| ENST00000614302.4:c.1719C>T | ENSP00000479130.1:p.Phe573= | |
| NM_001127214.3:c.1719C>T | NP_001120686.1:p.Phe573= | |
| NM_001243279.2:c.1719C>T | NP_001230208.1:p.Phe573= | |
| NM_001284316.1:c.924C>T | NP_001271245.1:p.Phe308= | |
| NM_174917.4:c.1719C>T | NP_777577.2:p.Phe573= | |
| NR_045667.2:n.845C>T | ||
| NR_104293.1:n.2153C>T | ||
| XR_933239.1:n.2160C>T | ||
| XR_933240.1:n.2157C>T | ||
| XR_933241.1:n.1914C>T | ||
| NR_147928.1:n.2197C>T | ||
| NR_147929.1:n.1951C>T | ||
| XM_017023020.2:c.-3386C>T | XP_016878509.1:n.-3386C>T | |
| XM_024450187.1:c.924C>T | XP_024305955.1:p.Phe308= | |
| XR_001751864.2:n.1966C>T | ||
| XR_933240.3:n.2156C>T | ||
| NM_001127214.4:c.1719C>T | NP_001120686.1:p.Phe573= | |
| NM_001243279.3:c.1719C>T MANE Select | NP_001230208.1:p.Phe573= | |
| NM_001284316.2:c.924C>T | NP_001271245.1:p.Phe308= | |
| NM_174917.5:c.1719C>T | NP_777577.2:p.Phe573= | |
| NR_104293.2:n.2110C>T | ||
| NR_147928.2:n.2154C>T | ||
| NR_147929.2:n.1908C>T |