Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113117896C>T , CM000664.2:g.113117896C>T | GRCh38 |
| NC_000002.11:g.113875473C>T , CM000664.1:g.113875473C>T | GRCh37 |
| NC_000002.10:g.113591944C>T | NCBI36 |
| NG_021240.1:g.5004C>T , LRG_188:g.5004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2170C>T | ENSP00000387210.1:n.-272-2170C>T | |
| ENST00000465812.6:n.775+231C>T | ||
| ENST00000361779.7:c.-342C>T | ENSP00000354816.3:n.-342C>T | |
| ENST00000409052.5:c.-272-2170C>T | ENSP00000387210.1:n.-272-2170C>T | |
| NM_000577.4:c.-123C>T | NP_000568.1:n.-123C>T | |
| NM_173841.2:c.-123C>T , LRG_188t1:c.-123C>T | NP_776213.1:n.-123C>T | |
| NM_173843.2:c.-342C>T | NP_776215.1:n.-342C>T | |
| XM_011511121.1:c.-272-2170C>T | XP_011509423.1:n.-272-2170C>T | |
| NM_001318914.1:c.-405C>T | NP_001305843.1:n.-405C>T |