Linked Data
gnomAD v4:
6-3154762-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154762T>G , CM000668.2:g.3154762T>G | GRCh38 |
| NC_000006.11:g.3154996T>G , CM000668.1:g.3154996T>G | GRCh37 |
| NC_000006.10:g.3099995T>G | NCBI36 |
| NG_042223.1:g.7788A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.439A>C MANE Select | ENSP00000369703.2:p.Met147Leu | |
| ENST00000679400.1:n.495A>C | ||
| ENST00000679907.1:n.827A>C | ||
| ENST00000680036.1:n.1221A>C | ||
| ENST00000680967.1:n.1529A>C | ||
| ENST00000333628.3:c.439A>C | ENSP00000369703.2:p.Met147Leu | |
| ENST00000489942.1:n.634A>C | ||
| NM_001069.2:c.439A>C | NP_001060.1:p.Met147Leu | |
| NM_001310315.1:c.184A>C | NP_001297244.1:p.Met62Leu | |
| NM_001069.3:c.439A>C MANE Select | NP_001060.1:p.Met147Leu | |
| NM_001310315.2:c.184A>C | NP_001297244.1:p.Met62Leu |