Linked Data
dbSNP Id:
rs1243748093
gnomAD v2:
19-11533397-T-C
gnomAD v3:
19-11422729-T-C
gnomAD v4:
19-11422729-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422729T>C , CM000681.2:g.11422729T>C | GRCh38 |
| NC_000019.9:g.11533397T>C , CM000681.1:g.11533397T>C | GRCh37 |
| NC_000019.8:g.11394397T>C | NCBI36 |
| NG_041777.1:g.18054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1249A>G MANE Select | ENSP00000348757.3:p.Lys417Glu | |
| ENST00000356392.8:c.1249A>G | ENSP00000348757.3:p.Lys417Glu | |
| ENST00000586836.5:c.676A>G | ENSP00000467429.1:p.Lys226Glu | |
| ENST00000591179.5:c.1069A>G | ENSP00000466800.1:p.Lys357Glu | |
| ENST00000591345.5:c.*1168A>G | ENSP00000467313.1:n.*1168A>G | |
| NM_001302453.1:c.1087A>G | NP_001289382.1:p.Lys363Glu | |
| NM_001302454.1:c.1069A>G | NP_001289383.1:p.Lys357Glu | |
| NM_145045.4:c.1249A>G | NP_659482.3:p.Lys417Glu | |
| NM_145045.5:c.1249A>G MANE Select | NP_659482.3:p.Lys417Glu | |
| NM_001302454.2:c.1069A>G | NP_001289383.1:p.Lys357Glu |