Linked Data
ClinVar Variation Id:
213418
dbSNP Id:
rs863223611
gnomAD v3:
5-128300835-T-C
gnomAD v4:
5-128300835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300835T>C , CM000667.2:g.128300835T>C | GRCh38 |
| NC_000005.9:g.127636527T>C , CM000667.1:g.127636527T>C | GRCh37 |
| NC_000005.8:g.127664426T>C | NCBI36 |
| NG_008750.1:g.242209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2932A>G | ||
| ENST00000703785.1:n.2851A>G | ||
| ENST00000262464.9:c.6148A>G MANE Select | ENSP00000262464.4:p.Lys2050Glu | |
| ENST00000262464.8:c.6148A>G | ENSP00000262464.4:p.Lys2050Glu | |
| ENST00000508053.5:c.6148A>G | ENSP00000424571.1:p.Lys2050Glu | |
| ENST00000619499.4:c.6145A>G | ENSP00000482132.1:p.Lys2049Glu | |
| NM_001999.3:c.6148A>G | NP_001990.2:p.Lys2050Glu | |
| XM_017009228.2:c.5995A>G | XP_016864717.1:p.Lys1999Glu | |
| NM_001999.4:c.6148A>G MANE Select | NP_001990.2:p.Lys2050Glu |