Linked Data
dbSNP Id:
rs1286782051
gnomAD v2:
16-30764609-A-G
gnomAD v3:
16-30753288-A-G
gnomAD v4:
16-30753288-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753288A>G , CM000678.2:g.30753288A>G | GRCh38 |
| NC_000016.9:g.30764609A>G , CM000678.1:g.30764609A>G | GRCh37 |
| NC_000016.8:g.30672110A>G | NCBI36 |
| NG_016616.1:g.9990A>G | |
| NG_016616.2:g.9990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.383A>G MANE Select | ENSP00000455607.1:p.Lys128Arg | |
| ENST00000328273.11:c.383A>G | ENSP00000329968.7:p.Lys128Arg | |
| ENST00000424889.7:c.383A>G | ENSP00000388571.3:p.Lys128Arg | |
| ENST00000561712.1:c.57A>G | ||
| ENST00000563588.5:c.383A>G | ENSP00000455607.1:p.Lys128Arg | |
| ENST00000563607.1:c.*55A>G | ENSP00000454641.1:n.*55A>G | |
| ENST00000563913.5:n.716A>G | ||
| ENST00000564838.5:n.757A>G | ||
| ENST00000565897.5:c.383A>G | ENSP00000457359.1:p.Lys128Arg | |
| ENST00000565924.5:c.383A>G | ENSP00000455091.1:p.Lys128Arg | |
| ENST00000569684.1:n.795A>G | ||
| NM_000294.2:c.383A>G | NP_000285.1:p.Lys128Arg | |
| NM_001172432.1:c.383A>G | NP_001165903.1:p.Lys128Arg | |
| NM_000294.3:c.383A>G MANE Select | NP_000285.1:p.Lys128Arg | |
| NM_001172432.2:c.383A>G | NP_001165903.1:p.Lys128Arg |