Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117832T>C , CM000664.2:g.113117832T>C | GRCh38 |
| NC_000002.11:g.113875409T>C , CM000664.1:g.113875409T>C | GRCh37 |
| NC_000002.10:g.113591880T>C | NCBI36 |
| NG_021240.1:g.4940T>C , LRG_188:g.4940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2234T>C | ENSP00000387210.1:n.-272-2234T>C | |
| ENST00000465812.6:n.775+167T>C | ||
| ENST00000409052.5:c.-272-2234T>C | ENSP00000387210.1:n.-272-2234T>C | |
| XM_011511121.1:c.-272-2234T>C | XP_011509423.1:n.-272-2234T>C |