Linked Data
gnomAD v4:
1-165419942-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165419942T>C , CM000663.2:g.165419942T>C | GRCh38 |
| NC_000001.10:g.165389179T>C , CM000663.1:g.165389179T>C | GRCh37 |
| NC_000001.9:g.163655803T>C | NCBI36 |
| NG_029517.1:g.30414A>G | |
| NG_029517.2:g.30414A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.370A>G MANE Select | ENSP00000352900.5:p.Met124Val | |
| ENST00000359842.9:c.370A>G | ENSP00000352900.5:p.Met124Val | |
| ENST00000470566.1:n.295A>G | ||
| ENST00000619224.1:c.1A>G | ENSP00000482458.1:p.Met1Val | |
| NM_001256570.1:c.1A>G | NP_001243499.1:p.Met1Val | |
| NM_001256571.1:c.1A>G | NP_001243500.1:p.Met1Val | |
| NM_006917.4:c.370A>G | NP_008848.1:p.Met124Val | |
| NM_006917.5:c.370A>G MANE Select | NP_008848.1:p.Met124Val | |
| NM_001256571.2:c.1A>G | NP_001243500.1:p.Met1Val | |
| NM_001256570.2:c.1A>G | NP_001243499.1:p.Met1Val |