Linked Data
ClinVar Variation Id:
286086
dbSNP Id:
rs144222167
ExAC:
5:78076449 T / C
gnomAD v2:
5-78076449-T-C
gnomAD v3:
5-78780626-T-C
gnomAD v4:
5-78780626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780626T>C , CM000667.2:g.78780626T>C | GRCh38 |
| NC_000005.9:g.78076449T>C , CM000667.1:g.78076449T>C | GRCh37 |
| NC_000005.8:g.78112205T>C | NCBI36 |
| NG_007089.1:g.210909A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1373A>G MANE Select | ENSP00000264914.4:p.Asn458Ser | |
| ENST00000264914.8:c.1373A>G | ENSP00000264914.4:p.Asn458Ser | |
| ENST00000521011.1:n.338A>G | ||
| NM_000046.3:c.1373A>G | NP_000037.2:p.Asn458Ser | |
| XM_011543390.1:c.1373A>G | XP_011541692.1:p.Asn458Ser | |
| NM_000046.4:c.1373A>G | NP_000037.2:p.Asn458Ser | |
| NM_000046.5:c.1373A>G MANE Select | NP_000037.2:p.Asn458Ser |