Linked Data
ClinVar Variation Id:
912286
dbSNP Id:
rs199923962
ExAC:
8:133984064 G / A
gnomAD v2:
8-133984064-G-A
gnomAD v3:
8-132971819-G-A
gnomAD v4:
8-132971819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132971819G>A , CM000670.2:g.132971819G>A | GRCh38 |
| NC_000008.10:g.133984064G>A , CM000670.1:g.133984064G>A | GRCh37 |
| NC_000008.9:g.134053246G>A | NCBI36 |
| NG_015832.1:g.109860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.6001G>A MANE Select | ENSP00000220616.4:p.Asp2001Asn | |
| ENST00000220616.8:c.6001G>A | ENSP00000220616.4:p.Asp2001Asn | |
| ENST00000519178.5:c.1367G>A | ||
| ENST00000519543.5:c.463G>A | ENSP00000430430.1:p.Asp155Asn | |
| ENST00000520089.5:n.110G>A | ||
| ENST00000520197.5:n.138G>A | ||
| ENST00000523756.5:c.2656G>A | ||
| NM_003235.4:c.6001G>A | NP_003226.4:p.Asp2001Asn | |
| XM_005251038.3:c.5809G>A | XP_005251095.1:p.Asp1937Asn | |
| XM_005251040.3:c.6001G>A | XP_005251097.1:p.Asp2001Asn | |
| XM_005251042.3:c.6001G>A | XP_005251099.1:p.Asp2001Asn | |
| XM_005251043.3:c.6001G>A | XP_005251100.1:p.Asp2001Asn | |
| XM_006716622.2:c.6001G>A | XP_006716685.1:p.Asp2001Asn | |
| XM_005251038.4:c.5809G>A | XP_005251095.1:p.Asp1937Asn | |
| XM_005251040.4:c.6001G>A | XP_005251097.1:p.Asp2001Asn | |
| XM_005251042.4:c.6001G>A | XP_005251099.1:p.Asp2001Asn | |
| XM_006716622.3:c.6001G>A | XP_006716685.1:p.Asp2001Asn | |
| XM_017013793.1:c.5935G>A | XP_016869282.1:p.Asp1979Asn | |
| XM_017013794.1:c.6001G>A | XP_016869283.1:p.Asp2001Asn | |
| XM_017013795.1:c.5830G>A | XP_016869284.1:p.Asp1944Asn | |
| XM_017013796.1:c.5782G>A | XP_016869285.1:p.Asp1928Asn | |
| XM_017013797.1:c.5740G>A | XP_016869286.1:p.Asp1914Asn | |
| XM_017013798.1:c.6001G>A | XP_016869287.1:p.Asp2001Asn | |
| XM_017013799.1:c.6001G>A | XP_016869288.1:p.Asp2001Asn | |
| XM_017013800.1:c.6001G>A | XP_016869289.1:p.Asp2001Asn | |
| NM_003235.5:c.6001G>A MANE Select | NP_003226.4:p.Asp2001Asn |