Linked Data
dbSNP Id:
rs765986147
ExAC:
4:39246001 A / G
gnomAD v2:
4-39246001-A-G
gnomAD v4:
4-39244381-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39244381A>G , CM000666.2:g.39244381A>G | GRCh38 |
| NC_000004.11:g.39246001A>G , CM000666.1:g.39246001A>G | GRCh37 |
| NC_000004.10:g.38922396A>G | NCBI36 |
| NG_031813.1:g.66978A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2555A>G MANE Select | ENSP00000382717.3:p.Asn852Ser | |
| ENST00000399820.7:c.2555A>G | ENSP00000382717.3:p.Asn852Ser | |
| ENST00000506869.5:c.*2136A>G | ENSP00000424319.1:n.*2136A>G | |
| ENST00000512095.5:n.1553A>G | ||
| NM_025132.3:c.2555A>G | NP_079408.3:p.Asn852Ser | |
| XM_011513724.1:c.2567A>G | XP_011512026.1:p.Asn856Ser | |
| XM_011513725.1:c.2501A>G | XP_011512027.1:p.Asn834Ser | |
| XM_011513726.1:c.2087A>G | XP_011512028.1:p.Asn696Ser | |
| XM_011513727.1:c.2087A>G | XP_011512029.1:p.Asn696Ser | |
| XM_011513728.1:c.2075A>G | XP_011512030.1:p.Asn692Ser | |
| XM_011513729.1:c.2567A>G | XP_011512031.1:p.Asn856Ser | |
| XR_925155.1:n.2631A>G | ||
| NM_001317924.1:c.2075A>G | NP_001304853.1:p.Asn692Ser | |
| XM_011513725.2:c.2501A>G | XP_011512027.1:p.Asn834Ser | |
| XM_011513726.3:c.2087A>G | XP_011512028.1:p.Asn696Ser | |
| XM_017008501.1:c.2075A>G | XP_016863990.1:p.Asn692Ser | |
| XR_001741306.1:n.2631A>G | ||
| XR_001741307.1:n.2619A>G | ||
| XR_001741308.1:n.2631A>G | ||
| XR_001741309.1:n.2619A>G | ||
| XR_001741310.1:n.2619A>G | ||
| XR_001741311.2:n.2468A>G | ||
| NM_025132.4:c.2555A>G MANE Select | NP_079408.3:p.Asn852Ser | |
| NM_001317924.2:c.2075A>G | NP_001304853.1:p.Asn692Ser |