Linked Data
ClinVar Variation Id:
697779
dbSNP Id:
rs565034311
ExAC:
9:34517341 C / T
gnomAD v2:
9-34517341-C-T
gnomAD v3:
9-34517343-C-T
gnomAD v4:
9-34517343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517343C>T , CM000671.2:g.34517343C>T | GRCh38 |
| NC_000009.11:g.34517341C>T , CM000671.1:g.34517341C>T | GRCh37 |
| NC_000009.10:g.34507341C>T | NCBI36 |
| NG_008127.1:g.63531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1877C>T MANE Select | ENSP00000242317.4:p.Ala626Val | |
| ENST00000242317.8:c.1877C>T | ENSP00000242317.4:p.Ala626Val | |
| ENST00000442556.1:c.329+2604C>T | ||
| ENST00000470169.5:c.665C>T | ||
| ENST00000485580.1:n.453C>T | ||
| ENST00000614641.4:c.1889C>T | ENSP00000480538.1:p.Ala630Val | |
| NM_001281428.1:c.1889C>T | NP_001268357.1:p.Ala630Val | |
| NM_012144.3:c.1877C>T | NP_036276.1:p.Ala626Val | |
| XM_006716758.2:c.1346C>T | XP_006716821.1:p.Ala449Val | |
| XM_011517848.1:c.1631C>T | XP_011516150.1:p.Ala544Val | |
| XM_006716758.3:c.1346C>T | XP_006716821.1:p.Ala449Val | |
| XM_011517848.2:c.1631C>T | XP_011516150.1:p.Ala544Val | |
| XM_017014625.2:c.1619C>T | XP_016870114.1:p.Ala540Val | |
| XR_002956774.1:n.1980C>T | ||
| NM_012144.4:c.1877C>T MANE Select | NP_036276.1:p.Ala626Val | |
| NM_001281428.2:c.1889C>T | NP_001268357.1:p.Ala630Val |