Linked Data
ClinVar Variation Id:
211066
dbSNP Id:
rs145131801
ExAC:
1:153784559 G / A
gnomAD v2:
1-153784559-G-A
gnomAD v3:
1-153812083-G-A
gnomAD v4:
1-153812083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153812083G>A , CM000663.2:g.153812083G>A | GRCh38 |
| NC_000001.10:g.153784559G>A , CM000663.1:g.153784559G>A | GRCh37 |
| NC_000001.9:g.152051183G>A | NCBI36 |
| NG_050988.1:g.115893C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368655.5:c.1469C>T MANE Select | ENSP00000357644.4:p.Ala490Val | |
| ENST00000368655.4:c.1469C>T | ENSP00000357644.4:p.Ala490Val | |
| ENST00000634408.1:c.1421C>T | ENSP00000489595.1:p.Ala474Val | |
| ENST00000634544.1:c.1469C>T | ENSP00000489184.1:p.Ala490Val | |
| ENST00000634564.1:c.723C>T | ||
| ENST00000634645.1:n.193C>T | ||
| NM_020699.2:c.1469C>T | NP_065750.1:p.Ala490Val | |
| XM_005245364.3:c.1469C>T | XP_005245421.1:p.Ala490Val | |
| XM_006711469.2:c.1469C>T | XP_006711532.1:p.Ala490Val | |
| XM_011509808.1:c.1469C>T | XP_011508110.1:p.Ala490Val | |
| NM_020699.3:c.1469C>T | NP_065750.1:p.Ala490Val | |
| XM_005245364.4:c.1469C>T | XP_005245421.1:p.Ala490Val | |
| XM_024448621.1:c.1469C>T | XP_024304389.1:p.Ala490Val | |
| NM_020699.4:c.1469C>T MANE Select | NP_065750.1:p.Ala490Val |