Linked Data
ClinVar Variation Id:
283916
dbSNP Id:
rs112039037
ExAC:
4:79460455 A / G
gnomAD v2:
4-79460455-A-G
gnomAD v3:
4-78539301-A-G
gnomAD v4:
4-78539301-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78539301A>G , CM000666.2:g.78539301A>G | GRCh38 |
| NC_000004.11:g.79460455A>G , CM000666.1:g.79460455A>G | GRCh37 |
| NC_000004.10:g.79679479A>G | NCBI36 |
| NG_015812.1:g.486732A>G | |
| NG_015812.2:g.486732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11306A>G MANE Select | ENSP00000422834.2:p.Asn3769Ser | |
| ENST00000512123.3:c.11306A>G | ENSP00000422834.2:p.Asn3769Ser | |
| NM_025074.6:c.11306A>G | NP_079350.5:p.Asn3769Ser | |
| XM_006714314.1:c.11300A>G | XP_006714377.1:p.Asn3767Ser | |
| XM_006714316.1:c.11078A>G | XP_006714379.1:p.Asn3693Ser | |
| XM_011532270.1:c.9005A>G | XP_011530572.1:p.Asn3002Ser | |
| XM_011532271.1:c.6194A>G | XP_011530573.1:p.Asn2065Ser | |
| XM_006714316.3:c.11078A>G | XP_006714379.1:p.Asn3693Ser | |
| NM_025074.7:c.11306A>G MANE Select | NP_079350.5:p.Asn3769Ser |