Linked Data
gnomAD v4:
17-61590481-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590481A>C , CM000679.2:g.61590481A>C | GRCh38 |
| NC_000017.10:g.59667842A>C , CM000679.1:g.59667842A>C | GRCh37 |
| NC_000017.9:g.57022624A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.*52T>G MANE Select | ENSP00000427802.1:n.*52T>G | |
| ENST00000521764.2:c.*52T>G | ENSP00000427802.1:n.*52T>G | |
| NM_199290.3:c.*52T>G | NP_954984.1:n.*52T>G | |
| NM_199290.4:c.*52T>G MANE Select | NP_954984.1:n.*52T>G |