Linked Data
ClinVar Variation Id:
972111
ClinVar RCV Id:
RCV001248069
dbSNP Id:
rs761852278
ExAC:
16:89212397 C / A
gnomAD v2:
16-89212397-C-A
gnomAD v3:
16-89145989-C-A
gnomAD v4:
16-89145989-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89145989C>A , CM000678.2:g.89145989C>A | GRCh38 |
| NC_000016.9:g.89212397C>A , CM000678.1:g.89212397C>A | GRCh37 |
| NC_000016.8:g.87739898C>A | NCBI36 |
| NG_031961.1:g.57181C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1553C>A | ENSP00000320646.4:p.Ala518Asp | |
| ENST00000614302.5:c.1553C>A MANE Select | ENSP00000479130.1:p.Ala518Asp | |
| ENST00000649953.1:c.1763C>A | ENSP00000497456.1:p.Ala588Asp | |
| ENST00000317447.8:c.1553C>A | ENSP00000320646.4:p.Ala518Asp | |
| ENST00000378345.8:c.758C>A | ENSP00000367596.4:p.Ala253Asp | |
| ENST00000406948.7:c.1553C>A | ENSP00000384627.3:p.Ala518Asp | |
| ENST00000535176.1:c.40C>A | ||
| ENST00000537116.5:n.679C>A | ||
| ENST00000537155.1:n.293C>A | ||
| ENST00000542688.5:c.*297C>A | ENSP00000446281.1:n.*297C>A | |
| ENST00000562204.1:n.526C>A | ||
| ENST00000614302.4:c.1553C>A | ENSP00000479130.1:p.Ala518Asp | |
| NM_001127214.3:c.1553C>A | NP_001120686.1:p.Ala518Asp | |
| NM_001243279.2:c.1553C>A | NP_001230208.1:p.Ala518Asp | |
| NM_001284316.1:c.758C>A | NP_001271245.1:p.Ala253Asp | |
| NM_174917.4:c.1553C>A | NP_777577.2:p.Ala518Asp | |
| NR_045667.2:n.679C>A | ||
| NR_104293.1:n.1987C>A | ||
| XM_005256293.1:c.1553C>A | XP_005256350.1:p.Ala518Asp | |
| XM_011522942.1:c.1553C>A | XP_011521244.1:p.Ala518Asp | |
| XM_011522943.1:c.1553C>A | XP_011521245.1:p.Ala518Asp | |
| XR_933239.1:n.1994C>A | ||
| XR_933240.1:n.1991C>A | ||
| XR_933241.1:n.1748C>A | ||
| NR_147928.1:n.2031C>A | ||
| NR_147929.1:n.1785C>A | ||
| XM_005256293.2:c.1553C>A | XP_005256350.1:p.Ala518Asp | |
| XM_017023018.1:c.1553C>A | XP_016878507.1:p.Ala518Asp | |
| XM_017023019.1:c.1553C>A | XP_016878508.1:p.Ala518Asp | |
| XM_017023020.2:c.-3552C>A | XP_016878509.1:n.-3552C>A | |
| XM_017023022.1:c.686C>A | XP_016878511.1:p.Ala229Asp | |
| XM_024450186.1:c.758C>A | XP_024305954.1:p.Ala253Asp | |
| XM_024450187.1:c.758C>A | XP_024305955.1:p.Ala253Asp | |
| XR_001751864.2:n.1800C>A | ||
| XR_001751865.1:n.1747C>A | ||
| XR_933240.3:n.1990C>A | ||
| NM_001127214.4:c.1553C>A | NP_001120686.1:p.Ala518Asp | |
| NM_001243279.3:c.1553C>A MANE Select | NP_001230208.1:p.Ala518Asp | |
| NM_001284316.2:c.758C>A | NP_001271245.1:p.Ala253Asp | |
| NM_174917.5:c.1553C>A | NP_777577.2:p.Ala518Asp | |
| NR_104293.2:n.1944C>A | ||
| NR_147928.2:n.1988C>A | ||
| NR_147929.2:n.1742C>A |