Linked Data
dbSNP Id:
rs80206158
ExAC:
14:65543318 T / G
gnomAD v2:
14-65543318-T-G
gnomAD v4:
14-65076600-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076600T>G , CM000676.2:g.65076600T>G | GRCh38 |
| NC_000014.8:g.65543318T>G , CM000676.1:g.65543318T>G | GRCh37 |
| NC_000014.7:g.64613071T>G | NCBI36 |
| NG_029830.1:g.30910A>C , LRG_530:g.30910A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.140A>C | ENSP00000452206.2:p.Asn47Thr | |
| ENST00000556979.6:c.*812A>C | ENSP00000452378.1:n.*812A>C | |
| ENST00000358664.9:c.359A>C MANE Select | ENSP00000351490.4:p.Asn120Thr | |
| ENST00000651648.1:c.145-6231A>C | ENSP00000498863.1:n.145-6231A>C | |
| ENST00000284165.10:c.*1203A>C | ENSP00000284165.6:n.*1203A>C | |
| ENST00000341653.6:c.171+17108A>C | ENSP00000342482.2:n.171+17108A>C | |
| ENST00000358402.8:c.332A>C | ENSP00000351175.4:p.Asn111Thr | |
| ENST00000358664.8:c.359A>C | ENSP00000351490.4:p.Asn120Thr | |
| ENST00000394606.6:c.*132A>C | ENSP00000378104.2:n.*132A>C | |
| ENST00000553928.5:c.*148A>C | ENSP00000451907.1:n.*148A>C | |
| ENST00000555419.5:c.251A>C | ENSP00000452405.1:p.Asn84Thr | |
| ENST00000555932.5:c.100A>C | ENSP00000450763.1:p.Thr34Pro | |
| ENST00000557277.5:c.170A>C | ENSP00000450955.1:p.Asn57Thr | |
| ENST00000618858.4:c.*148A>C | ENSP00000480127.1:n.*148A>C | |
| NM_001271069.1:c.144+17108A>C | NP_001257998.1:n.144+17108A>C | |
| NM_002382.4:c.359A>C | NP_002373.3:p.Asn120Thr | |
| NM_145112.2:c.332A>C | NP_660087.1:p.Asn111Thr | |
| NM_145113.2:c.*148A>C | NP_660088.1:n.*148A>C | |
| NM_197957.3:c.171+17108A>C | NP_932061.1:n.171+17108A>C | |
| NR_073137.1:n.483A>C | ||
| XR_429315.2:n.646A>C | ||
| XR_943450.1:n.727A>C | ||
| XR_943451.1:n.743A>C | ||
| XR_943452.1:n.689A>C | ||
| NM_001320415.1:c.170A>C | NP_001307344.1:p.Asn57Thr | |
| XM_017021312.2:c.170A>C | XP_016876801.1:p.Asn57Thr | |
| XM_017021313.1:c.170A>C | XP_016876802.1:p.Asn57Thr | |
| XR_001750326.2:n.704A>C | ||
| XR_001750327.2:n.623A>C | ||
| XR_002957553.1:n.1137A>C | ||
| XR_943450.3:n.727A>C | ||
| XR_943451.3:n.743A>C | ||
| XR_943452.3:n.688A>C | ||
| NM_001320415.2:c.170A>C | NP_001307344.1:p.Asn57Thr | |
| NM_002382.5:c.359A>C MANE Select | NP_002373.3:p.Asn120Thr | |
| NM_145112.3:c.332A>C | NP_660087.1:p.Asn111Thr | |
| NM_145113.3:c.*148A>C | NP_660088.1:n.*148A>C | |
| NM_001271069.2:c.144+17108A>C | NP_001257998.1:n.144+17108A>C | |
| NM_197957.4:c.171+17108A>C | NP_932061.1:n.171+17108A>C |