Linked Data
ClinVar Variation Id:
1610272
ClinVar RCV Id:
RCV002145141
dbSNP Id:
rs1323403685
gnomAD v2:
3-58413761-C-T
gnomAD v3:
3-58428034-C-T
gnomAD v4:
3-58428034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58428034C>T , CM000665.2:g.58428034C>T | GRCh38 |
| NC_000003.11:g.58413761C>T , CM000665.1:g.58413761C>T | GRCh37 |
| NC_000003.10:g.58388801C>T | NCBI36 |
| NG_016860.1:g.10819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.1080G>A MANE Select | ENSP00000307241.6:p.Ter360= | |
| ENST00000302746.10:c.1080G>A | ENSP00000307241.6:p.Ter360= | |
| ENST00000383714.8:c.1026G>A | ENSP00000373220.4:p.Ter342= | |
| ENST00000461692.5:n.1193G>A | ||
| ENST00000469364.5:c.*466G>A | ENSP00000419580.1:n.*466G>A | |
| ENST00000474765.1:c.*94G>A | ENSP00000418448.1:n.*94G>A | |
| ENST00000479945.1:n.4106G>A | ||
| ENST00000485460.5:c.1026G>A | ENSP00000417267.1:p.Ter342= | |
| NM_000925.3:c.1080G>A | NP_000916.2:p.Ter360= | |
| NM_001173468.1:c.1026G>A | NP_001166939.1:p.Ter342= | |
| NM_001315536.1:c.1026G>A | NP_001302465.1:p.Ter342= | |
| NR_033384.1:n.1193G>A | ||
| NM_000925.4:c.1080G>A MANE Select | NP_000916.2:p.Ter360= | |
| NM_001173468.2:c.1026G>A | NP_001166939.1:p.Ter342= | |
| NM_001315536.2:c.1026G>A | NP_001302465.1:p.Ter342= | |
| NR_033384.2:n.1186G>A |