Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601702T>C , CM000672.2:g.110601702T>C | GRCh38 |
| NC_000010.10:g.112361460T>C , CM000672.1:g.112361460T>C | GRCh37 |
| NC_000010.9:g.112351450T>C | NCBI36 |
| NG_012217.1:g.39012T>C , LRG_774:g.39012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4943T>C | ||
| ENST00000685743.1:n.2418T>C | ||
| ENST00000686057.1:n.1061T>C | ||
| ENST00000689321.1:n.1673T>C | ||
| ENST00000689986.1:n.499T>C | ||
| ENST00000361804.5:c.2710T>C MANE Select | ENSP00000354720.5:p.Trp904Arg | |
| ENST00000361804.4:c.2710T>C | ENSP00000354720.4:p.Trp904Arg | |
| NM_005445.3:c.2710T>C , LRG_774t1:c.2710T>C | NP_005436.1:p.Trp904Arg | |
| NM_005445.4:c.2710T>C MANE Select | NP_005436.1:p.Trp904Arg |