Linked Data
dbSNP Id:
rs1313429993
gnomAD v2:
1-11333844-G-A
gnomAD v3:
1-11273787-G-A
gnomAD v4:
1-11273787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273787G>A , CM000663.2:g.11273787G>A | GRCh38 |
| NC_000001.10:g.11333844G>A , CM000663.1:g.11333844G>A | GRCh37 |
| NC_000001.9:g.11256431G>A | NCBI36 |
| NG_009443.1:g.5590G>A | |
| NG_009443.2:g.5590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.256G>A MANE Select | ENSP00000366006.5:p.Gly86Ser | |
| ENST00000376804.2:c.256G>A | ENSP00000366000.1:p.Gly86Ser | |
| ENST00000376810.5:c.256G>A | ENSP00000366006.5:p.Gly86Ser | |
| NM_013319.2:c.256G>A | NP_037451.1:p.Gly86Ser | |
| XM_006710590.2:c.256G>A | XP_006710653.1:p.Gly86Ser | |
| XM_011541304.1:c.256G>A | XP_011539606.1:p.Gly86Ser | |
| XR_946616.1:n.590G>A | ||
| NM_001330349.1:c.256G>A | NP_001317278.1:p.Gly86Ser | |
| NM_001330350.1:c.256G>A | NP_001317279.1:p.Gly86Ser | |
| XR_946616.3:n.590G>A | ||
| NM_001330349.2:c.256G>A | NP_001317278.1:p.Gly86Ser | |
| NM_001330350.2:c.256G>A | NP_001317279.1:p.Gly86Ser | |
| NM_013319.3:c.256G>A MANE Select | NP_037451.1:p.Gly86Ser |