Linked Data
ClinVar Variation Id:
1647894
ClinVar RCV Id:
RCV002160717
dbSNP Id:
rs749945707
ExAC:
3:58413836 T / C
gnomAD v2:
3-58413836-T-C
gnomAD v3:
3-58428109-T-C
gnomAD v4:
3-58428109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58428109T>C , CM000665.2:g.58428109T>C | GRCh38 |
| NC_000003.11:g.58413836T>C , CM000665.1:g.58413836T>C | GRCh37 |
| NC_000003.10:g.58388876T>C | NCBI36 |
| NG_016860.1:g.10744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.1005A>G MANE Select | ENSP00000307241.6:p.Ala335= | |
| ENST00000302746.10:c.1005A>G | ENSP00000307241.6:p.Ala335= | |
| ENST00000383714.8:c.951A>G | ENSP00000373220.4:p.Ala317= | |
| ENST00000461692.5:n.1118A>G | ||
| ENST00000469364.5:c.*391A>G | ENSP00000419580.1:n.*391A>G | |
| ENST00000474765.1:c.*19A>G | ENSP00000418448.1:n.*19A>G | |
| ENST00000479945.1:n.4031A>G | ||
| ENST00000485460.5:c.951A>G | ENSP00000417267.1:p.Ala317= | |
| NM_000925.3:c.1005A>G | NP_000916.2:p.Ala335= | |
| NM_001173468.1:c.951A>G | NP_001166939.1:p.Ala317= | |
| NM_001315536.1:c.951A>G | NP_001302465.1:p.Ala317= | |
| NR_033384.1:n.1118A>G | ||
| NM_000925.4:c.1005A>G MANE Select | NP_000916.2:p.Ala335= | |
| NM_001173468.2:c.951A>G | NP_001166939.1:p.Ala317= | |
| NM_001315536.2:c.951A>G | NP_001302465.1:p.Ala317= | |
| NR_033384.2:n.1111A>G |