Linked Data
ClinVar Variation Id:
437905
dbSNP Id:
rs372388344
ExAC:
10:73574856 G / A
gnomAD v2:
10-73574856-G-A
gnomAD v3:
10-71815099-G-A
gnomAD v4:
10-71815099-G-A
PubMed:
PMID:28413019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71815099G>A , CM000672.2:g.71815099G>A | GRCh38 |
| NC_000010.10:g.73574856G>A , CM000672.1:g.73574856G>A | GRCh37 |
| NC_000010.9:g.73244862G>A | NCBI36 |
| NG_008835.1:g.423153G>A | |
| NG_009301.1:g.41227C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.9886G>A MANE Select | ENSP00000224721.9:p.Asp3296Asn | |
| ENST00000642965.1:c.3819G>A | ENSP00000495222.1:n.3819G>A | |
| ENST00000647092.1:c.3378G>A | ENSP00000495176.1:n.3378G>A | |
| ENST00000224721.10:c.9901G>A | ENSP00000224721.8:p.Asp3301Asn | |
| ENST00000398788.4:c.3166G>A | ENSP00000381768.3:p.Asp1056Asn | |
| ENST00000475158.1:n.3317G>A | ||
| ENST00000619887.4:c.3061G>A | ENSP00000478374.1:p.Asp1021Asn | |
| ENST00000622827.4:c.9886G>A | ENSP00000483211.1:p.Asp3296Asn | |
| NM_001171933.1:c.3166G>A | NP_001165404.1:p.Asp1056Asn | |
| NM_001171934.1:c.3061G>A | NP_001165405.1:p.Asp1021Asn | |
| NM_001171935.1:c.577G>A | NP_001165406.1:p.Asp193Asn | |
| NM_001171936.1:c.472G>A | NP_001165407.1:p.Asp158Asn | |
| NM_022124.5:c.9886G>A | NP_071407.4:p.Asp3296Asn | |
| XM_006717940.2:c.10081G>A | XP_006718003.1:p.Asp3361Asn | |
| XM_006717942.2:c.10015G>A | XP_006718005.1:p.Asp3339Asn | |
| XM_011540039.1:c.10078G>A | XP_011538341.1:p.Asp3360Asn | |
| XM_011540040.1:c.10075G>A | XP_011538342.1:p.Asp3359Asn | |
| XM_011540041.1:c.10021G>A | XP_011538343.1:p.Asp3341Asn | |
| XM_011540042.1:c.9991G>A | XP_011538344.1:p.Asp3331Asn | |
| XM_011540043.1:c.9976G>A | XP_011538345.1:p.Asp3326Asn | |
| XM_011540044.1:c.9946G>A | XP_011538346.1:p.Asp3316Asn | |
| XM_011540046.1:c.9541G>A | XP_011538348.1:p.Asp3181Asn | |
| XM_011540047.1:c.8899G>A | XP_011538349.1:p.Asp2967Asn | |
| XM_011540052.1:c.6409G>A | XP_011538354.1:p.Asp2137Asn | |
| NM_022124.6:c.9886G>A MANE Select | NP_071407.4:p.Asp3296Asn |