Linked Data
gnomAD v4:
13-48303749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303749T>C , CM000675.2:g.48303749T>C | GRCh38 |
| NC_000013.10:g.48877885T>C , CM000675.1:g.48877885T>C | GRCh37 |
| NC_000013.9:g.47775886T>C | NCBI36 |
| NG_009009.1:g.5003T>C , LRG_517:g.5003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646097.1:c.-164T>C | ENSP00000496556.1:n.-164T>C | |
| ENST00000650461.1:c.-164T>C | ENSP00000497193.1:n.-164T>C | |
| NM_000321.2:c.-164T>C , LRG_517t1:c.-164T>C | NP_000312.2:n.-164T>C |