Linked Data
ClinVar Variation Id:
2947096
ClinVar RCV Id:
RCV003801286
dbSNP Id:
rs752668123
ExAC:
12:14019107 G / C
gnomAD v2:
12-14019107-G-C
gnomAD v4:
12-13866173-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13866173G>C , CM000674.2:g.13866173G>C | GRCh38 |
| NC_000012.11:g.14019107G>C , CM000674.1:g.14019107G>C | GRCh37 |
| NC_000012.10:g.13910374G>C | NCBI36 |
| NG_031854.1:g.118916C>G | |
| NG_031854.2:g.120840C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.36C>G MANE Select | ENSP00000477455.1:p.Phe12Leu | |
| ENST00000630791.2:c.36C>G | ENSP00000486677.2:p.Phe12Leu | |
| ENST00000609686.3:c.36C>G | ENSP00000477455.1:p.Phe12Leu | |
| ENST00000627535.2:c.36C>G | ENSP00000486411.1:p.Phe12Leu | |
| ENST00000630791.1:c.36C>G | ENSP00000486677.1:p.Phe12Leu | |
| NM_000834.3:c.36C>G | NP_000825.2:p.Phe12Leu | |
| XM_011520628.1:c.36C>G | XP_011518930.1:p.Phe12Leu | |
| XM_011520629.1:c.36C>G | XP_011518931.1:p.Phe12Leu | |
| XM_011520630.1:c.36C>G | XP_011518932.1:p.Phe12Leu | |
| NM_000834.4:c.36C>G | NP_000825.2:p.Phe12Leu | |
| XM_011520628.2:c.36C>G | XP_011518930.1:p.Phe12Leu | |
| XM_011520629.2:c.36C>G | XP_011518931.1:p.Phe12Leu | |
| XM_017019219.2:c.36C>G | XP_016874708.1:p.Phe12Leu | |
| NM_000834.5:c.36C>G MANE Select | NP_000825.2:p.Phe12Leu |