Linked Data
ClinVar Variation Id:
528400
dbSNP Id:
rs1262933234
gnomAD v2:
5-127597490-T-G
gnomAD v3:
5-128261798-T-G
gnomAD v4:
5-128261798-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261798T>G , CM000667.2:g.128261798T>G | GRCh38 |
| NC_000005.9:g.127597490T>G , CM000667.1:g.127597490T>G | GRCh37 |
| NC_000005.8:g.127625389T>G | NCBI36 |
| NG_008750.1:g.281246A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8302A>C MANE Select | ENSP00000262464.4:p.Asn2768His | |
| ENST00000262464.8:c.8302A>C | ENSP00000262464.4:p.Asn2768His | |
| ENST00000508053.5:c.8302A>C | ENSP00000424571.1:p.Asn2768His | |
| ENST00000619499.4:c.8299A>C | ENSP00000482132.1:p.Asn2767His | |
| NM_001999.3:c.8302A>C | NP_001990.2:p.Asn2768His | |
| XM_017009228.2:c.8149A>C | XP_016864717.1:p.Asn2717His | |
| NM_001999.4:c.8302A>C MANE Select | NP_001990.2:p.Asn2768His |