Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086837G>T , CM000673.2:g.112086837G>T | GRCh38 |
| NC_000011.9:g.111957561G>T , CM000673.1:g.111957561G>T | GRCh37 |
| NC_000011.8:g.111462771G>T | NCBI36 |
| NG_012337.2:g.4991G>T | |
| NG_033145.1:g.4962C>A | |
| NG_012337.3:g.4991G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640554.1:c.-71G>T | ENSP00000491141.1:n.-71G>T | |
| ENST00000375549.7:c.-71G>T | ENSP00000364699.3:n.-71G>T | |
| ENST00000614349.4:c.-71G>T | ENSP00000480666.1:n.-71G>T | |
| NM_001276503.1:c.-71G>T | NP_001263432.1:n.-71G>T | |
| NM_001276504.1:c.-71G>T | NP_001263433.1:n.-71G>T | |
| NM_001276506.1:c.-71G>T | NP_001263435.1:n.-71G>T | |
| NM_003002.3:c.-71G>T | NP_002993.1:n.-71G>T | |
| NR_077060.1:n.14G>T |