Linked Data
dbSNP Id:
rs778889075
ExAC:
1:226125204 C / A
gnomAD v2:
1-226125204-C-A
gnomAD v3:
1-225937504-C-A
gnomAD v4:
1-225937504-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225937504C>A , CM000663.2:g.225937504C>A | GRCh38 |
| NC_000001.10:g.226125204C>A , CM000663.1:g.226125204C>A | GRCh37 |
| NC_000001.9:g.224191827C>A | NCBI36 |
| NG_008118.1:g.8717G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366820.10:c.1038G>T MANE Select | ENSP00000355785.5:p.Met346Ile | |
| ENST00000366820.9:c.1038G>T | ENSP00000355785.5:p.Met346Ile | |
| ENST00000420304.6:c.936G>T | ENSP00000388009.2:p.Met312Ile | |
| ENST00000616737.1:c.1038G>T | ENSP00000484300.1:p.Met346Ile | |
| NM_001172425.1:c.936G>T | NP_001165896.1:p.Met312Ile | |
| NM_003240.3:c.1038G>T | NP_003231.2:p.Met346Ile | |
| NM_001172425.2:c.936G>T | NP_001165896.1:p.Met312Ile | |
| NM_003240.4:c.1038G>T | NP_003231.2:p.Met346Ile | |
| NM_003240.5:c.1038G>T MANE Select | NP_003231.2:p.Met346Ile | |
| NM_001172425.3:c.936G>T | NP_001165896.1:p.Met312Ile |