Linked Data
ClinVar Variation Id:
2828381
ClinVar RCV Id:
RCV003643930
dbSNP Id:
rs763984193
ExAC:
16:89220591 C / A
gnomAD v2:
16-89220591-C-A
gnomAD v4:
16-89154183-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154183C>A , CM000678.2:g.89154183C>A | GRCh38 |
| NC_000016.9:g.89220591C>A , CM000678.1:g.89220591C>A | GRCh37 |
| NC_000016.8:g.87748092C>A | NCBI36 |
| NG_031961.1:g.65375C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1707C>A | ENSP00000320646.4:p.Leu569= | |
| ENST00000614302.5:c.1707C>A MANE Select | ENSP00000479130.1:p.Leu569= | |
| ENST00000649953.1:c.1917C>A | ENSP00000497456.1:p.Leu639= | |
| ENST00000317447.8:c.1707C>A | ENSP00000320646.4:p.Leu569= | |
| ENST00000378345.8:c.912C>A | ENSP00000367596.4:p.Leu304= | |
| ENST00000393145.5:n.6617C>A | ||
| ENST00000406948.7:c.1707C>A | ENSP00000384627.3:p.Leu569= | |
| ENST00000537116.5:n.833C>A | ||
| ENST00000537155.1:n.447C>A | ||
| ENST00000542688.5:c.*451C>A | ENSP00000446281.1:n.*451C>A | |
| ENST00000614302.4:c.1707C>A | ENSP00000479130.1:p.Leu569= | |
| NM_001127214.3:c.1707C>A | NP_001120686.1:p.Leu569= | |
| NM_001243279.2:c.1707C>A | NP_001230208.1:p.Leu569= | |
| NM_001284316.1:c.912C>A | NP_001271245.1:p.Leu304= | |
| NM_174917.4:c.1707C>A | NP_777577.2:p.Leu569= | |
| NR_045667.2:n.833C>A | ||
| NR_104293.1:n.2141C>A | ||
| XR_933239.1:n.2148C>A | ||
| XR_933240.1:n.2145C>A | ||
| XR_933241.1:n.1902C>A | ||
| NR_147928.1:n.2185C>A | ||
| NR_147929.1:n.1939C>A | ||
| XM_017023020.2:c.-3398C>A | XP_016878509.1:n.-3398C>A | |
| XM_024450187.1:c.912C>A | XP_024305955.1:p.Leu304= | |
| XR_001751864.2:n.1954C>A | ||
| XR_933240.3:n.2144C>A | ||
| NM_001127214.4:c.1707C>A | NP_001120686.1:p.Leu569= | |
| NM_001243279.3:c.1707C>A MANE Select | NP_001230208.1:p.Leu569= | |
| NM_001284316.2:c.912C>A | NP_001271245.1:p.Leu304= | |
| NM_174917.5:c.1707C>A | NP_777577.2:p.Leu569= | |
| NR_104293.2:n.2098C>A | ||
| NR_147928.2:n.2142C>A | ||
| NR_147929.2:n.1896C>A |