Linked Data
gnomAD v4:
X-132127914-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127914C>G , CM000685.2:g.132127914C>G | GRCh38 |
| NC_000023.10:g.131261942C>G , CM000685.1:g.131261942C>G | GRCh37 |
| NC_000023.9:g.131089623C>G | NCBI36 |
| NG_012347.1:g.5109G>C , LRG_867:g.5109G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298542.9:c.-70G>C MANE Select | ENSP00000298542.3:n.-70G>C | |
| ENST00000298542.8:c.-70G>C | ENSP00000298542.3:n.-70G>C | |
| NM_001306193.1:c.-70G>C | NP_001293122.1:n.-70G>C | |
| NM_194277.2:c.-70G>C , LRG_867t1:c.-70G>C | NP_919253.1:n.-70G>C | |
| NM_001306193.2:c.-70G>C | NP_001293122.1:n.-70G>C | |
| NM_194277.3:c.-70G>C MANE Select | NP_919253.1:n.-70G>C |