Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41621260A>T , CM000684.2:g.41621260A>T | GRCh38 |
| NC_000022.10:g.42017264A>T , CM000684.1:g.42017264A>T | GRCh37 |
| NC_000022.9:g.40347210A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360079.7:c.-101A>T | ENSP00000353192.3:n.-101A>T | |
| ENST00000428575.6:c.-138A>T | ENSP00000403679.3:n.-138A>T | |
| NM_001288977.1:c.-101A>T | NP_001275906.1:n.-101A>T | |
| NM_001288978.1:c.-138A>T | NP_001275907.1:n.-138A>T | |
| NM_001469.4:c.-101A>T | NP_001460.1:n.-101A>T |