Linked Data
dbSNP Id:
rs2229125
ExAC:
8:26721888 A / C
gnomAD v2:
8-26721888-A-C
gnomAD v3:
8-26864371-A-C
gnomAD v4:
8-26864371-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26864371A>C , CM000670.2:g.26864371A>C | GRCh38 |
| NC_000008.10:g.26721888A>C , CM000670.1:g.26721888A>C | GRCh37 |
| NC_000008.9:g.26777805A>C | NCBI36 |
| NG_029395.1:g.6035T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380573.4:c.599T>G MANE Select | ENSP00000369947.3:p.Ile200Ser | |
| ENST00000276393.8:c.599T>G | ENSP00000276393.4:p.Ile200Ser | |
| ENST00000354550.4:c.599T>G | ENSP00000346557.4:p.Ile200Ser | |
| ENST00000380572.3:c.599T>G | ENSP00000369946.3:p.Ile200Ser | |
| ENST00000380573.3:c.599T>G | ENSP00000369947.3:p.Ile200Ser | |
| ENST00000380582.7:c.599T>G | ENSP00000369956.3:p.Ile200Ser | |
| ENST00000380586.5:c.599T>G | ENSP00000369960.1:p.Ile200Ser | |
| ENST00000519096.5:c.599T>G | ENSP00000431073.1:p.Ile200Ser | |
| ENST00000519229.5:c.599T>G | ENSP00000430793.1:p.Ile200Ser | |
| ENST00000521711.5:c.599T>G | ENSP00000430414.1:p.Ile200Ser | |
| NM_000680.2:c.599T>G | NP_000671.2:p.Ile200Ser | |
| NM_033302.2:c.599T>G | NP_150645.2:p.Ile200Ser | |
| NM_033303.3:c.599T>G | NP_150646.3:p.Ile200Ser | |
| NM_033304.2:c.599T>G | NP_150647.2:p.Ile200Ser | |
| XM_005273414.3:c.599T>G | XP_005273471.1:p.Ile200Ser | |
| XM_006716292.2:c.599T>G | XP_006716355.1:p.Ile200Ser | |
| XM_006716293.2:c.599T>G | XP_006716356.1:p.Ile200Ser | |
| XM_011544411.1:c.599T>G | XP_011542713.1:p.Ile200Ser | |
| XM_011544412.1:c.599T>G | XP_011542714.1:p.Ile200Ser | |
| NM_000680.3:c.599T>G | NP_000671.2:p.Ile200Ser | |
| NM_001322502.1:c.599T>G | NP_001309431.1:p.Ile200Ser | |
| NM_001322503.1:c.599T>G | NP_001309432.1:p.Ile200Ser | |
| NM_001322504.1:c.599T>G | NP_001309433.1:p.Ile200Ser | |
| NM_033302.3:c.599T>G | NP_150645.2:p.Ile200Ser | |
| NM_033303.4:c.599T>G | NP_150646.3:p.Ile200Ser | |
| NM_033304.3:c.599T>G | NP_150647.2:p.Ile200Ser | |
| NR_136343.1:n.1285T>G | ||
| XM_006716292.3:c.599T>G | XP_006716355.1:p.Ile200Ser | |
| XM_006716293.4:c.599T>G | XP_006716356.1:p.Ile200Ser | |
| XM_011544411.2:c.599T>G | XP_011542713.1:p.Ile200Ser | |
| XM_011544412.3:c.599T>G | XP_011542714.1:p.Ile200Ser | |
| XM_017013094.1:c.599T>G | XP_016868583.1:p.Ile200Ser | |
| XM_017013095.1:c.599T>G | XP_016868584.1:p.Ile200Ser | |
| XM_017013096.1:c.599T>G | XP_016868585.1:p.Ile200Ser | |
| XR_001745476.1:n.1620T>G | ||
| XR_001745477.1:n.1620T>G | ||
| NM_000680.4:c.599T>G MANE Select | NP_000671.2:p.Ile200Ser |