Linked Data
gnomAD v4:
17-70179272-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70179272T>C , CM000679.2:g.70179272T>C | GRCh38 |
| NC_000017.10:g.68175413T>C , CM000679.1:g.68175413T>C | GRCh37 |
| NC_000017.9:g.65687008T>C | NCBI36 |
| NG_008798.1:g.14738T>C , LRG_328:g.14738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.*2949T>C MANE Select | ENSP00000243457.2:n.*2949T>C | |
| ENST00000243457.3:c.*2949T>C | ENSP00000243457.2:n.*2949T>C | |
| NM_000891.2:c.*2949T>C , LRG_328t1:c.*2949T>C | NP_000882.1:n.*2949T>C | |
| NM_000891.3:c.*2949T>C MANE Select | NP_000882.1:n.*2949T>C |