Linked Data
gnomAD v4:
2-219060421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060421A>G , CM000664.2:g.219060421A>G | GRCh38 |
| NC_000002.11:g.219925143A>G , CM000664.1:g.219925143A>G | GRCh37 |
| NC_000002.10:g.219633387A>G | NCBI36 |
| NG_016741.1:g.5096T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.47T>C MANE Select | ENSP00000295731.5:p.Leu16Pro | |
| ENST00000295731.6:c.47T>C | ENSP00000295731.5:p.Leu16Pro | |
| NM_002181.3:c.47T>C | NP_002172.2:p.Leu16Pro | |
| NM_002181.4:c.47T>C MANE Select | NP_002172.2:p.Leu16Pro |