Linked Data
ClinVar Variation Id:
834746
ClinVar RCV Id:
RCV001035491
dbSNP Id:
rs1483314784
gnomAD v2:
14-65543328-A-C
gnomAD v3:
14-65076610-A-C
gnomAD v4:
14-65076610-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076610A>C , CM000676.2:g.65076610A>C | GRCh38 |
| NC_000014.8:g.65543328A>C , CM000676.1:g.65543328A>C | GRCh37 |
| NC_000014.7:g.64613081A>C | NCBI36 |
| NG_029830.1:g.30900T>G , LRG_530:g.30900T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.130T>G | ENSP00000452206.2:p.Ser44Ala | |
| ENST00000556979.6:c.*802T>G | ENSP00000452378.1:n.*802T>G | |
| ENST00000358664.9:c.349T>G MANE Select | ENSP00000351490.4:p.Ser117Ala | |
| ENST00000651648.1:c.145-6241T>G | ENSP00000498863.1:n.145-6241T>G | |
| ENST00000284165.10:c.*1193T>G | ENSP00000284165.6:n.*1193T>G | |
| ENST00000341653.6:c.171+17098T>G | ENSP00000342482.2:n.171+17098T>G | |
| ENST00000358402.8:c.322T>G | ENSP00000351175.4:p.Ser108Ala | |
| ENST00000358664.8:c.349T>G | ENSP00000351490.4:p.Ser117Ala | |
| ENST00000394606.6:c.*122T>G | ENSP00000378104.2:n.*122T>G | |
| ENST00000553928.5:c.*138T>G | ENSP00000451907.1:n.*138T>G | |
| ENST00000555419.5:c.241T>G | ENSP00000452405.1:p.Ser81Ala | |
| ENST00000555932.5:c.90T>G | ENSP00000450763.1:p.Pro30= | |
| ENST00000556892.5:c.130T>G | ||
| ENST00000557277.5:c.160T>G | ENSP00000450955.1:p.Ser54Ala | |
| ENST00000618858.4:c.*138T>G | ENSP00000480127.1:n.*138T>G | |
| NM_001271069.1:c.144+17098T>G | NP_001257998.1:n.144+17098T>G | |
| NM_002382.4:c.349T>G | NP_002373.3:p.Ser117Ala | |
| NM_145112.2:c.322T>G | NP_660087.1:p.Ser108Ala | |
| NM_145113.2:c.*138T>G | NP_660088.1:n.*138T>G | |
| NM_197957.3:c.171+17098T>G | NP_932061.1:n.171+17098T>G | |
| NR_073137.1:n.473T>G | ||
| XR_429315.2:n.636T>G | ||
| XR_943450.1:n.717T>G | ||
| XR_943451.1:n.733T>G | ||
| XR_943452.1:n.679T>G | ||
| NM_001320415.1:c.160T>G | NP_001307344.1:p.Ser54Ala | |
| XM_017021312.2:c.160T>G | XP_016876801.1:p.Ser54Ala | |
| XM_017021313.1:c.160T>G | XP_016876802.1:p.Ser54Ala | |
| XR_001750326.2:n.694T>G | ||
| XR_001750327.2:n.613T>G | ||
| XR_002957553.1:n.1127T>G | ||
| XR_943450.3:n.717T>G | ||
| XR_943451.3:n.733T>G | ||
| XR_943452.3:n.678T>G | ||
| NM_001320415.2:c.160T>G | NP_001307344.1:p.Ser54Ala | |
| NM_002382.5:c.349T>G MANE Select | NP_002373.3:p.Ser117Ala | |
| NM_145112.3:c.322T>G | NP_660087.1:p.Ser108Ala | |
| NM_145113.3:c.*138T>G | NP_660088.1:n.*138T>G | |
| NM_001271069.2:c.144+17098T>G | NP_001257998.1:n.144+17098T>G | |
| NM_197957.4:c.171+17098T>G | NP_932061.1:n.171+17098T>G |