Linked Data
ClinVar Variation Id:
2982518
ClinVar RCV Id:
RCV003843165
dbSNP Id:
rs777157827
ExAC:
16:89220501 T / C
gnomAD v2:
16-89220501-T-C
gnomAD v4:
16-89154093-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154093T>C , CM000678.2:g.89154093T>C | GRCh38 |
| NC_000016.9:g.89220501T>C , CM000678.1:g.89220501T>C | GRCh37 |
| NC_000016.8:g.87748002T>C | NCBI36 |
| NG_031961.1:g.65285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1617T>C | ENSP00000320646.4:p.Asn539= | |
| ENST00000614302.5:c.1617T>C MANE Select | ENSP00000479130.1:p.Asn539= | |
| ENST00000649953.1:c.1827T>C | ENSP00000497456.1:p.Asn609= | |
| ENST00000317447.8:c.1617T>C | ENSP00000320646.4:p.Asn539= | |
| ENST00000378345.8:c.822T>C | ENSP00000367596.4:p.Asn274= | |
| ENST00000393145.5:n.6527T>C | ||
| ENST00000406948.7:c.1617T>C | ENSP00000384627.3:p.Asn539= | |
| ENST00000537116.5:n.743T>C | ||
| ENST00000537155.1:n.357T>C | ||
| ENST00000542688.5:c.*361T>C | ENSP00000446281.1:n.*361T>C | |
| ENST00000614302.4:c.1617T>C | ENSP00000479130.1:p.Asn539= | |
| NM_001127214.3:c.1617T>C | NP_001120686.1:p.Asn539= | |
| NM_001243279.2:c.1617T>C | NP_001230208.1:p.Asn539= | |
| NM_001284316.1:c.822T>C | NP_001271245.1:p.Asn274= | |
| NM_174917.4:c.1617T>C | NP_777577.2:p.Asn539= | |
| NR_045667.2:n.743T>C | ||
| NR_104293.1:n.2051T>C | ||
| XR_933239.1:n.2058T>C | ||
| XR_933240.1:n.2055T>C | ||
| XR_933241.1:n.1812T>C | ||
| NR_147928.1:n.2095T>C | ||
| NR_147929.1:n.1849T>C | ||
| XM_017023020.2:c.-3488T>C | XP_016878509.1:n.-3488T>C | |
| XM_024450187.1:c.822T>C | XP_024305955.1:p.Asn274= | |
| XR_001751864.2:n.1864T>C | ||
| XR_933240.3:n.2054T>C | ||
| NM_001127214.4:c.1617T>C | NP_001120686.1:p.Asn539= | |
| NM_001243279.3:c.1617T>C MANE Select | NP_001230208.1:p.Asn539= | |
| NM_001284316.2:c.822T>C | NP_001271245.1:p.Asn274= | |
| NM_174917.5:c.1617T>C | NP_777577.2:p.Asn539= | |
| NR_104293.2:n.2008T>C | ||
| NR_147928.2:n.2052T>C | ||
| NR_147929.2:n.1806T>C |