Linked Data
ClinVar Variation Id:
2447489
ClinVar RCV Id:
RCV003176468
dbSNP Id:
rs758370305
ExAC:
14:65543300 G / T
gnomAD v2:
14-65543300-G-T
gnomAD v4:
14-65076582-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076582G>T , CM000676.2:g.65076582G>T | GRCh38 |
| NC_000014.8:g.65543300G>T , CM000676.1:g.65543300G>T | GRCh37 |
| NC_000014.7:g.64613053G>T | NCBI36 |
| NG_029830.1:g.30928C>A , LRG_530:g.30928C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.158C>A | ENSP00000452206.2:p.Ala53Asp | |
| ENST00000556979.6:c.*830C>A | ENSP00000452378.1:n.*830C>A | |
| ENST00000358664.9:c.377C>A MANE Select | ENSP00000351490.4:p.Ala126Asp | |
| ENST00000651648.1:c.145-6213C>A | ENSP00000498863.1:n.145-6213C>A | |
| ENST00000284165.10:c.*1221C>A | ENSP00000284165.6:n.*1221C>A | |
| ENST00000341653.6:c.171+17126C>A | ENSP00000342482.2:n.171+17126C>A | |
| ENST00000358402.8:c.350C>A | ENSP00000351175.4:p.Ala117Asp | |
| ENST00000358664.8:c.377C>A | ENSP00000351490.4:p.Ala126Asp | |
| ENST00000394606.6:c.*150C>A | ENSP00000378104.2:n.*150C>A | |
| ENST00000553928.5:c.*166C>A | ENSP00000451907.1:n.*166C>A | |
| ENST00000555419.5:c.269C>A | ENSP00000452405.1:p.Ala90Asp | |
| ENST00000555932.5:c.118C>A | ENSP00000450763.1:p.Pro40Thr | |
| ENST00000557277.5:c.188C>A | ENSP00000450955.1:p.Ala63Asp | |
| ENST00000618858.4:c.*166C>A | ENSP00000480127.1:n.*166C>A | |
| NM_001271069.1:c.144+17126C>A | NP_001257998.1:n.144+17126C>A | |
| NM_002382.4:c.377C>A | NP_002373.3:p.Ala126Asp | |
| NM_145112.2:c.350C>A | NP_660087.1:p.Ala117Asp | |
| NM_145113.2:c.*166C>A | NP_660088.1:n.*166C>A | |
| NM_197957.3:c.171+17126C>A | NP_932061.1:n.171+17126C>A | |
| NR_073137.1:n.501C>A | ||
| XR_429315.2:n.664C>A | ||
| XR_943450.1:n.745C>A | ||
| XR_943451.1:n.761C>A | ||
| XR_943452.1:n.707C>A | ||
| NM_001320415.1:c.188C>A | NP_001307344.1:p.Ala63Asp | |
| XM_017021312.2:c.188C>A | XP_016876801.1:p.Ala63Asp | |
| XM_017021313.1:c.188C>A | XP_016876802.1:p.Ala63Asp | |
| XR_001750326.2:n.722C>A | ||
| XR_001750327.2:n.641C>A | ||
| XR_002957553.1:n.1155C>A | ||
| XR_943450.3:n.745C>A | ||
| XR_943451.3:n.761C>A | ||
| XR_943452.3:n.706C>A | ||
| NM_001320415.2:c.188C>A | NP_001307344.1:p.Ala63Asp | |
| NM_002382.5:c.377C>A MANE Select | NP_002373.3:p.Ala126Asp | |
| NM_145112.3:c.350C>A | NP_660087.1:p.Ala117Asp | |
| NM_145113.3:c.*166C>A | NP_660088.1:n.*166C>A | |
| NM_001271069.2:c.144+17126C>A | NP_001257998.1:n.144+17126C>A | |
| NM_197957.4:c.171+17126C>A | NP_932061.1:n.171+17126C>A |