Linked Data
ClinVar Variation Id:
3098841
ClinVar RCV Id:
RCV004395206
dbSNP Id:
rs1044367200
gnomAD v2:
3-81584424-G-A
gnomAD v4:
3-81535273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535273G>A , CM000665.2:g.81535273G>A | GRCh38 |
| NC_000003.11:g.81584424G>A , CM000665.1:g.81584424G>A | GRCh37 |
| NC_000003.10:g.81667114G>A | NCBI36 |
| NG_011810.1:g.231528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1856C>T MANE Select | ENSP00000410833.2:p.Ala619Val | |
| ENST00000429644.6:c.1856C>T | ENSP00000410833.2:p.Ala619Val | |
| ENST00000484687.1:n.257C>T | ||
| ENST00000489715.1:c.1733C>T | ENSP00000419638.1:p.Ala578Val | |
| NM_000158.3:c.1856C>T | NP_000149.3:p.Ala619Val | |
| NM_000158.4:c.1856C>T MANE Select | NP_000149.4:p.Ala619Val |