Linked Data
ClinVar Variation Id:
127925
ClinVar RCV Id:
RCV000115854
RCV000120505
RCV000123247
RCV000858568
RCV001357821
RCV001798346
RCV003328177
RCV003483479
RCV003915125
dbSNP Id:
rs200894246
ExAC:
16:68863674 G / A
gnomAD v2:
16-68863674-G-A
gnomAD v3:
16-68829771-G-A
gnomAD v4:
16-68829771-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829771G>A , CM000678.2:g.68829771G>A | GRCh38 |
| NC_000016.9:g.68863674G>A , CM000678.1:g.68863674G>A | GRCh37 |
| NC_000016.8:g.67421175G>A | NCBI36 |
| NG_008021.1:g.97480G>A , LRG_301:g.97480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2413G>A MANE Select | ENSP00000261769.4:p.Asp805Asn | |
| ENST00000261769.9:c.2413G>A | ENSP00000261769.4:p.Asp805Asn | |
| ENST00000422392.6:c.2230G>A | ENSP00000414946.2:p.Asp744Asn | |
| ENST00000562118.1:n.631G>A | ||
| ENST00000562836.5:n.2484G>A | ||
| ENST00000566510.5:c.*1079G>A | ENSP00000458139.1:n.*1079G>A | |
| ENST00000566612.5:c.*653G>A | ENSP00000454782.1:n.*653G>A | |
| ENST00000611625.4:c.2476G>A | ENSP00000481063.1:p.Asp826Asn | |
| ENST00000612417.4:c.1853+3217G>A | ENSP00000478360.1:n.1853+3217G>A | |
| ENST00000621016.4:c.1866-4432G>A | ENSP00000480664.1:n.1866-4432G>A | |
| NM_004360.3:c.2413G>A , LRG_301t1:c.2413G>A | NP_004351.1:p.Asp805Asn | |
| XM_011523488.1:c.1678G>A | XP_011521790.1:p.Asp560Asn | |
| XM_011523489.1:c.1678G>A | XP_011521791.1:p.Asp560Asn | |
| NM_001317184.1:c.2230G>A | NP_001304113.1:p.Asp744Asn | |
| NM_001317185.1:c.865G>A | NP_001304114.1:p.Asp289Asn | |
| NM_001317186.1:c.448G>A | NP_001304115.1:p.Asp150Asn | |
| NM_004360.4:c.2413G>A | NP_004351.1:p.Asp805Asn | |
| NM_004360.5:c.2413G>A MANE Select | NP_004351.1:p.Asp805Asn | |
| NM_001317184.2:c.2230G>A | NP_001304113.1:p.Asp744Asn | |
| NM_001317185.2:c.865G>A | NP_001304114.1:p.Asp289Asn | |
| NM_001317186.2:c.448G>A | NP_001304115.1:p.Asp150Asn |