Linked Data
gnomAD v4:
13-48303755-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303755G>C , CM000675.2:g.48303755G>C | GRCh38 |
| NC_000013.10:g.48877891G>C , CM000675.1:g.48877891G>C | GRCh37 |
| NC_000013.9:g.47775892G>C | NCBI36 |
| NG_009009.1:g.5009G>C , LRG_517:g.5009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.-158G>C MANE Select | ENSP00000267163.4:n.-158G>C | |
| ENST00000646097.1:c.-158G>C | ENSP00000496556.1:n.-158G>C | |
| ENST00000650461.1:c.-158G>C | ENSP00000497193.1:n.-158G>C | |
| ENST00000525036.1:n.5G>C | ||
| NM_000321.2:c.-158G>C , LRG_517t1:c.-158G>C | NP_000312.2:n.-158G>C | |
| NM_000321.3:c.-158G>C MANE Select | NP_000312.2:n.-158G>C |