Linked Data
gnomAD v4:
4-185143410-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143410T>C , CM000666.2:g.185143410T>C | GRCh38 |
| NC_000004.11:g.186064564T>C , CM000666.1:g.186064564T>C | GRCh37 |
| NC_000004.10:g.186301558T>C | NCBI36 |
| NG_013001.1:g.5148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.38T>C MANE Select | ENSP00000281456.5:p.Leu13Pro | |
| ENST00000281456.10:c.38T>C | ENSP00000281456.5:p.Leu13Pro | |
| ENST00000491736.1:c.38T>C | ENSP00000476711.1:p.Leu13Pro | |
| NM_001151.3:c.38T>C | NP_001142.2:p.Leu13Pro | |
| NM_001151.4:c.38T>C MANE Select | NP_001142.2:p.Leu13Pro |