Linked Data
ClinVar Variation Id:
1603199
dbSNP Id:
rs374368931
ExAC:
21:47685885 G / A
gnomAD v2:
21-47685885-G-A
gnomAD v3:
21-46265971-G-A
gnomAD v4:
21-46265971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46265971G>A , CM000683.2:g.46265971G>A | GRCh38 |
| NC_000021.8:g.47685885G>A , CM000683.1:g.47685885G>A | GRCh37 |
| NC_000021.7:g.46510313G>A | NCBI36 |
| NG_033881.1:g.24352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291688.6:c.2985C>T MANE Select | ENSP00000291688.1:p.Ala995= | |
| ENST00000291688.5:c.2985C>T | ENSP00000291688.1:p.Ala995= | |
| ENST00000397708.1:c.2985C>T | ENSP00000380820.1:p.Ala995= | |
| ENST00000486937.5:n.1277C>T | ||
| ENST00000496607.5:n.982C>T | ||
| NM_003906.4:c.2985C>T | NP_003897.2:p.Ala995= | |
| XM_005261203.3:c.2985C>T | XP_005261260.1:p.Ala995= | |
| XM_005261204.3:c.2985C>T | XP_005261261.1:p.Ala995= | |
| XM_005261205.2:c.2985C>T | XP_005261262.1:p.Ala995= | |
| XM_005261206.3:c.2985C>T | XP_005261263.1:p.Ala995= | |
| XM_006724064.2:c.2985C>T | XP_006724127.1:p.Ala995= | |
| XR_937577.1:n.3574C>T | ||
| XM_005261203.4:c.2985C>T | XP_005261260.1:p.Ala995= | |
| XM_005261204.5:c.2985C>T | XP_005261261.1:p.Ala995= | |
| XM_005261205.4:c.2985C>T | XP_005261262.1:p.Ala995= | |
| NM_003906.5:c.2985C>T MANE Select | NP_003897.2:p.Ala995= |