Linked Data
ClinVar Variation Id:
452397
dbSNP Id:
rs1016100479
gnomAD v2:
5-127626540-T-C
gnomAD v3:
5-128290848-T-C
gnomAD v4:
5-128290848-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128290848T>C , CM000667.2:g.128290848T>C | GRCh38 |
| NC_000005.9:g.127626540T>C , CM000667.1:g.127626540T>C | GRCh37 |
| NC_000005.8:g.127654439T>C | NCBI36 |
| NG_008750.1:g.252196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3113A>G | ||
| ENST00000703785.1:n.3032A>G | ||
| ENST00000262464.9:c.6329A>G MANE Select | ENSP00000262464.4:p.Asn2110Ser | |
| ENST00000262464.8:c.6329A>G | ENSP00000262464.4:p.Asn2110Ser | |
| ENST00000508053.5:c.6329A>G | ENSP00000424571.1:p.Asn2110Ser | |
| ENST00000619499.4:c.6326A>G | ENSP00000482132.1:p.Asn2109Ser | |
| NM_001999.3:c.6329A>G | NP_001990.2:p.Asn2110Ser | |
| XM_017009228.2:c.6176A>G | XP_016864717.1:p.Asn2059Ser | |
| NM_001999.4:c.6329A>G MANE Select | NP_001990.2:p.Asn2110Ser |