Linked Data
ClinVar Variation Id:
363279
dbSNP Id:
rs189145468
ExAC:
8:55537354 G / T
gnomAD v2:
8-55537354-G-T
gnomAD v3:
8-54624794-G-T
gnomAD v4:
8-54624794-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54624794G>T , CM000670.2:g.54624794G>T | GRCh38 |
| NC_000008.10:g.55537354G>T , CM000670.1:g.55537354G>T | GRCh37 |
| NC_000008.9:g.55699907G>T | NCBI36 |
| NG_009840.1:g.13728G>T | |
| NG_009840.2:g.13728G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.912G>T MANE Select | ENSP00000220676.1:p.Lys304Asn | |
| ENST00000636932.1:c.787+2506G>T | ENSP00000489857.1:n.787+2506G>T | |
| ENST00000637698.1:c.787+2506G>T | ENSP00000490104.1:n.787+2506G>T | |
| ENST00000220676.1:c.912G>T | ENSP00000220676.1:p.Lys304Asn | |
| NM_006269.1:c.912G>T | NP_006260.1:p.Lys304Asn | |
| XM_017013721.1:c.933G>T | XP_016869210.1:p.Lys311Asn | |
| XM_017013722.1:c.912G>T | XP_016869211.1:p.Lys304Asn | |
| NM_001375654.1:c.787+2506G>T | NP_001362583.1:n.787+2506G>T | |
| NM_006269.2:c.912G>T MANE Select | NP_006260.1:p.Lys304Asn |