Linked Data
ClinVar Variation Id:
385006
dbSNP Id:
rs141731085
ExAC:
10:70192265 T / C
gnomAD v2:
10-70192265-T-C
gnomAD v3:
10-68432508-T-C
gnomAD v4:
10-68432508-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68432508T>C , CM000672.2:g.68432508T>C | GRCh38 |
| NC_000010.10:g.70192265T>C , CM000672.1:g.70192265T>C | GRCh37 |
| NC_000010.9:g.69862271T>C | NCBI36 |
| NG_034247.1:g.44466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358410.8:c.1649A>G MANE Select | ENSP00000351185.3:p.Asn550Ser | |
| ENST00000358410.7:c.1649A>G | ENSP00000351185.3:p.Asn550Ser | |
| ENST00000399179.6:c.1649A>G | ENSP00000382132.3:p.Asn550Ser | |
| ENST00000399180.3:c.1649A>G | ENSP00000382133.3:p.Asn550Ser | |
| ENST00000551118.6:c.1649A>G | ENSP00000450393.3:p.Asn550Ser | |
| NM_001080449.2:c.1649A>G | NP_001073918.2:p.Asn550Ser | |
| NR_102264.1:n.1738A>G | ||
| XM_006717680.2:c.1739A>G | XP_006717743.1:p.Asn580Ser | |
| XM_011539416.1:c.1739A>G | XP_011537718.1:p.Asn580Ser | |
| XM_011539417.1:c.569A>G | XP_011537719.1:p.Asn190Ser | |
| XM_011539418.1:c.1739A>G | XP_011537720.1:p.Asn580Ser | |
| XM_011539419.1:c.1739A>G | XP_011537721.1:p.Asn580Ser | |
| XM_006717680.3:c.1739A>G | XP_006717743.1:p.Asn580Ser | |
| XM_017015799.1:c.977A>G | XP_016871288.1:p.Asn326Ser | |
| NM_001080449.3:c.1649A>G MANE Select | NP_001073918.2:p.Asn550Ser | |
| NR_102264.2:n.1738A>G |