Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601960T>C , CM000672.2:g.110601960T>C | GRCh38 |
| NC_000010.10:g.112361718T>C , CM000672.1:g.112361718T>C | GRCh37 |
| NC_000010.9:g.112351708T>C | NCBI36 |
| NG_012217.1:g.39270T>C , LRG_774:g.39270T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2893-6T>C MANE Select | NP_005436.1:n.2893-6T>C |
| ENST00000361804.5:c.2893-6T>C MANE Select | ENSP00000354720.5:n.2893-6T>C |
| NM_005445.3:c.2893-6T>C , LRG_774t1:c.2893-6T>C | NP_005436.1:n.2893-6T>C |
| ENST00000361804.4:c.2893-6T>C | ENSP00000354720.4:n.2893-6T>C |
| ENST00000684988.1:n.5126-6T>C | |
| ENST00000685743.1:n.2601-6T>C | |
| ENST00000686057.1:n.1244-6T>C | |
| ENST00000689321.1:n.1856-6T>C | |
| ENST00000689986.1:n.682-6T>C |