Linked Data
dbSNP Id:
rs369355134
ExAC:
11:111957477 A / G
gnomAD v3:
11-112086753-A-G
gnomAD v4:
11-112086753-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086753A>G , CM000673.2:g.112086753A>G | GRCh38 |
| NC_000011.9:g.111957477A>G , CM000673.1:g.111957477A>G | GRCh37 |
| NC_000011.8:g.111462687A>G | NCBI36 |
| NG_012337.2:g.4907A>G | |
| NG_033145.1:g.5046T>C | |
| NG_012337.3:g.4907A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-30T>C MANE Select | ENSP00000422122.2:n.-30T>C | |
| ENST00000504148.2:c.-30T>C | ENSP00000422122.2:n.-30T>C | |
| ENST00000509359.6:c.-30T>C | ENSP00000421964.2:n.-30T>C | |
| ENST00000541231.1:c.16T>C | ENSP00000438455.1:p.Cys6Arg | |
| NM_012459.2:c.16T>C | NP_036591.2:p.Cys6Arg | |
| NR_028383.1:n.46T>C | ||
| NM_012459.3:c.-30T>C | NP_036591.3:n.-30T>C | |
| NR_028383.2:n.4T>C | ||
| NR_160400.1:n.4T>C | ||
| NM_012459.4:c.-30T>C MANE Select | NP_036591.3:n.-30T>C |