Linked Data
ClinVar Variation Id:
14191
dbSNP Id:
rs121913603
gnomAD v2:
1-161276512-T-G
gnomAD v3:
1-161306722-T-G
gnomAD v4:
1-161306722-T-G
PubMed:
PMID:12845552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306722T>G , CM000663.2:g.161306722T>G | GRCh38 |
| NC_000001.10:g.161276512T>G , CM000663.1:g.161276512T>G | GRCh37 |
| NC_000001.9:g.159543136T>G | NCBI36 |
| NG_008055.1:g.8251A>C , LRG_256:g.8251A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+67A>C | ENSP00000488104.2:n.367+67A>C | |
| ENST00000533357.5:c.434A>C MANE Select | ENSP00000432943.1:p.Tyr145Ser | |
| ENST00000672287.2:c.-155A>C | ENSP00000499818.2:n.-155A>C | |
| ENST00000672602.2:c.434A>C | ENSP00000500814.2:p.Tyr145Ser | |
| ENST00000674861.1:n.497A>C | ||
| ENST00000463290.5:c.434A>C | ENSP00000431538.1:p.Tyr145Ser | |
| ENST00000491222.5:c.-155A>C | ENSP00000431441.1:n.-155A>C | |
| ENST00000526189.2:c.111+67A>C | ||
| ENST00000533357.4:c.434A>C | ENSP00000432943.1:p.Tyr145Ser | |
| NM_000530.6:c.434A>C , LRG_256t1:c.434A>C | NP_000521.2:p.Tyr145Ser | |
| NM_000530.7:c.434A>C | NP_000521.2:p.Tyr145Ser | |
| NM_001315491.1:c.434A>C | NP_001302420.1:p.Tyr145Ser | |
| XM_017001321.2:c.464A>C | XP_016856810.1:p.Tyr155Ser | |
| NM_000530.8:c.434A>C MANE Select | NP_000521.2:p.Tyr145Ser | |
| NM_001315491.2:c.434A>C | NP_001302420.1:p.Tyr145Ser |