Linked Data
dbSNP Id:
rs773274752
ExAC:
2:27534794 T / G
gnomAD v2:
2-27534794-T-G
gnomAD v4:
2-27311926-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27311926T>G , CM000664.2:g.27311926T>G | GRCh38 |
| NC_000002.11:g.27534794T>G , CM000664.1:g.27534794T>G | GRCh37 |
| NC_000002.10:g.27388298T>G | NCBI36 |
| NG_008075.1:g.15638A>C | |
| NG_033055.1:g.1337A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.434A>C MANE Select | ENSP00000369383.1:p.Asn145Thr | |
| ENST00000233545.6:c.434A>C | ENSP00000233545.2:p.Asn145Thr | |
| ENST00000357186.10:c.266A>C | ENSP00000349713.6:p.Asn89Thr | |
| ENST00000380044.5:c.434A>C | ENSP00000369383.1:p.Asn145Thr | |
| ENST00000402310.5:c.408+288A>C | ENSP00000383955.1:n.408+288A>C | |
| ENST00000402722.5:c.*40+568A>C | ENSP00000386000.1:n.*40+568A>C | |
| ENST00000403262.6:c.434A>C | ENSP00000385671.1:p.Asn145Thr | |
| ENST00000405076.5:c.245A>C | ENSP00000385175.1:p.Asn82Thr | |
| ENST00000405983.5:c.479A>C | ENSP00000384586.1:p.Asn160Thr | |
| ENST00000415514.5:c.*235A>C | ENSP00000388043.1:n.*235A>C | |
| ENST00000426513.6:c.*99A>C | ENSP00000403824.2:n.*99A>C | |
| ENST00000430991.5:c.268A>C | ||
| ENST00000616707.1:n.1462A>C | ||
| ENST00000620797.4:n.107A>C | ||
| ENST00000621183.4:n.737A>C | ||
| NM_002437.4:c.434A>C | NP_002428.1:p.Asn145Thr | |
| XM_005264326.2:c.434A>C | XP_005264383.1:p.Asn145Thr | |
| XM_005264327.2:c.275A>C | XP_005264384.1:p.Asn92Thr | |
| XM_006712021.2:c.386A>C | XP_006712084.1:p.Asn129Thr | |
| XM_005264326.4:c.434A>C | XP_005264383.1:p.Asn145Thr | |
| XM_006712021.3:c.386A>C | XP_006712084.1:p.Asn129Thr | |
| XM_017004150.1:c.416A>C | XP_016859639.1:p.Asn139Thr | |
| XM_017004151.1:c.386A>C | XP_016859640.1:p.Asn129Thr | |
| XM_017004152.1:c.275A>C | XP_016859641.1:p.Asn92Thr | |
| XM_024452913.1:c.386A>C | XP_024308681.1:p.Asn129Thr | |
| NM_002437.5:c.434A>C MANE Select | NP_002428.1:p.Asn145Thr |