Linked Data
gnomAD v4:
15-66703296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703296T>C , CM000677.2:g.66703296T>C | GRCh38 |
| NC_000015.9:g.66995634T>C , CM000677.1:g.66995634T>C | GRCh37 |
| NC_000015.8:g.64782688T>C | NCBI36 |
| NG_012244.1:g.5961T>C | |
| NG_012244.2:g.5961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.38T>C MANE Select | ENSP00000288840.5:p.Leu13Pro | |
| ENST00000288840.9:c.38T>C | ENSP00000288840.5:p.Leu13Pro | |
| ENST00000557916.5:c.38T>C | ENSP00000452955.1:p.Leu13Pro | |
| ENST00000612349.1:n.220T>C | ||
| NM_005585.4:c.38T>C | NP_005576.3:p.Leu13Pro | |
| NR_027654.1:n.961T>C | ||
| XR_931825.1:n.1197T>C | ||
| XR_931826.1:n.1197T>C | ||
| XR_931827.1:n.1197T>C | ||
| XR_931827.2:n.1187T>C | ||
| NM_005585.5:c.38T>C MANE Select | NP_005576.3:p.Leu13Pro | |
| NR_027654.2:n.1061T>C |