Linked Data
dbSNP Id:
rs777880839
ExAC:
11:6340626 T / C
gnomAD v2:
11-6340626-T-C
gnomAD v4:
11-6319396-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319396T>C , CM000673.2:g.6319396T>C | GRCh38 |
| NC_000011.9:g.6340626T>C , CM000673.1:g.6340626T>C | GRCh37 |
| NC_000011.8:g.6297202T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.553A>G MANE Select | ENSP00000307292.3:p.Lys185Glu | |
| ENST00000303927.3:c.553A>G | ENSP00000307292.3:p.Lys185Glu | |
| ENST00000524852.1:n.339A>G | ||
| ENST00000530979.1:c.649A>G | ENSP00000432047.1:p.Lys217Glu | |
| ENST00000532354.1:n.575A>G | ||
| NM_145040.2:c.553A>G | NP_659477.2:p.Lys185Glu | |
| XR_930997.1:n.720+1176T>C | ||
| XR_001748106.1:n.7T>C | ||
| XR_242848.4:n.256T>C | ||
| NM_145040.3:c.553A>G MANE Select | NP_659477.2:p.Lys185Glu |