Linked Data
ClinVar Variation Id:
238112
dbSNP Id:
rs878854128
gnomAD v2:
3-10191592-G-C
gnomAD v4:
3-10149908-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149908G>C , CM000665.2:g.10149908G>C | GRCh38 |
| NC_000003.11:g.10191592G>C , CM000665.1:g.10191592G>C | GRCh37 |
| NC_000003.10:g.10166592G>C | NCBI36 |
| NG_008212.3:g.13274G>C , LRG_322:g.13274G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*262G>C | ENSP00000512434.1:n.*262G>C | |
| ENST00000696143.1:c.721G>C | ENSP00000512435.1:n.721G>C | |
| ENST00000696153.1:c.696G>C | ENSP00000512444.1:p.Gln232His | |
| ENST00000256474.3:c.585G>C MANE Select | ENSP00000256474.3:p.Gln195His | |
| ENST00000256474.2:c.585G>C | ENSP00000256474.2:p.Gln195His | |
| ENST00000345392.2:c.462G>C | ENSP00000344757.2:p.Gln154His | |
| ENST00000477538.1:n.721G>C | ||
| NM_000551.3:c.585G>C , LRG_322t1:c.585G>C | NP_000542.1:p.Gln195His | |
| NM_198156.2:c.462G>C | NP_937799.1:p.Gln154His | |
| NM_001354723.1:c.*139G>C | NP_001341652.1:n.*139G>C | |
| NM_000551.4:c.585G>C MANE Select | NP_000542.1:p.Gln195His | |
| NM_001354723.2:c.*139G>C | NP_001341652.1:n.*139G>C | |
| NM_198156.3:c.462G>C | NP_937799.1:p.Gln154His |