Linked Data
ClinVar Variation Id:
1616708
dbSNP Id:
rs1404344759
gnomAD v2:
1-161275750-T-C
gnomAD v3:
1-161305960-T-C
gnomAD v4:
1-161305960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161305960T>C , CM000663.2:g.161305960T>C | GRCh38 |
| NC_000001.10:g.161275750T>C , CM000663.1:g.161275750T>C | GRCh37 |
| NC_000001.9:g.159542374T>C | NCBI36 |
| NG_008055.1:g.9013A>G , LRG_256:g.9013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.582A>G | ENSP00000488104.2:p.Ala194= | |
| ENST00000533357.5:c.663A>G MANE Select | ENSP00000432943.1:p.Ala221= | |
| ENST00000672287.2:c.75A>G | ENSP00000499818.2:p.Ala25= | |
| ENST00000672602.2:c.663A>G | ENSP00000500814.2:p.Ala221= | |
| ENST00000674861.1:n.726A>G | ||
| ENST00000463290.5:c.663A>G | ENSP00000431538.1:p.Ala221= | |
| ENST00000476410.1:n.253A>G | ||
| ENST00000488271.1:n.101A>G | ||
| ENST00000491222.5:c.75A>G | ENSP00000431441.1:p.Ala25= | |
| ENST00000526189.2:c.326A>G | ||
| ENST00000533357.4:c.663A>G | ENSP00000432943.1:p.Ala221= | |
| NM_000530.6:c.663A>G , LRG_256t1:c.663A>G | NP_000521.2:p.Ala221= | |
| NM_000530.7:c.663A>G | NP_000521.2:p.Ala221= | |
| NM_001315491.1:c.663A>G | NP_001302420.1:p.Ala221= | |
| XM_017001321.2:c.675+148A>G | XP_016856810.1:n.675+148A>G | |
| NM_000530.8:c.663A>G MANE Select | NP_000521.2:p.Ala221= | |
| NM_001315491.2:c.663A>G | NP_001302420.1:p.Ala221= |