Linked Data
ClinVar Variation Id:
226529
dbSNP Id:
rs28362775
ExAC:
14:31354707 G / A
gnomAD v2:
14-31354707-G-A
gnomAD v3:
14-30885501-G-A
gnomAD v4:
14-30885501-G-A
ERepo:
CA7143202/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885501G>A , CM000676.2:g.30885501G>A | GRCh38 |
| NC_000014.8:g.31354707G>A , CM000676.1:g.31354707G>A | GRCh37 |
| NC_000014.7:g.30424458G>A | NCBI36 |
| NG_008211.2:g.15967G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.1036G>A | ENSP00000216361.5:p.Asp346Asn | |
| ENST00000396618.9:c.841G>A MANE Select | ENSP00000379862.3:p.Asp281Asn | |
| ENST00000555117.2:c.898G>A | ENSP00000493569.1:p.Asp300Asn | |
| ENST00000643575.1:c.841G>A | ENSP00000494838.1:p.Asp281Asn | |
| ENST00000643697.1:n.1143G>A | ||
| ENST00000644874.2:c.841G>A | ENSP00000496360.1:p.Asp281Asn | |
| ENST00000216361.8:c.841G>A | ENSP00000216361.4:p.Asp281Asn | |
| ENST00000396618.7:c.841G>A | ENSP00000379862.3:p.Asp281Asn | |
| ENST00000460581.6:c.505G>A | ENSP00000451713.1:p.Asp169Asn | |
| ENST00000468826.2:c.492G>A | ||
| ENST00000475087.5:c.841G>A | ENSP00000451528.1:p.Asp281Asn | |
| ENST00000555881.5:c.487G>A | ENSP00000452569.1:p.Asp163Asn | |
| ENST00000557065.1:c.623G>A | ENSP00000451629.1:n.623G>A | |
| NM_001135058.1:c.841G>A | NP_001128530.1:p.Asp281Asn | |
| NM_004086.2:c.841G>A | NP_004077.1:p.Asp281Asn | |
| NR_038356.1:n.1364C>T | ||
| XM_011536539.1:c.841G>A | XP_011534841.1:p.Asp281Asn | |
| NM_001347720.1:c.1036G>A | NP_001334649.1:p.Asp346Asn | |
| XM_017021071.1:c.1036G>A | XP_016876560.1:p.Asp346Asn | |
| XM_024449506.1:c.898G>A | XP_024305274.1:p.Asp300Asn | |
| NM_004086.3:c.841G>A MANE Select | NP_004077.1:p.Asp281Asn | |
| NM_001135058.2:c.841G>A | NP_001128530.1:p.Asp281Asn | |
| NM_001347720.2:c.1036G>A | NP_001334649.1:p.Asp346Asn |