Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119102004A>G , CM000673.2:g.119102004A>G | GRCh38 |
| NC_000011.9:g.118972714A>G , CM000673.1:g.118972714A>G | GRCh37 |
| NC_000011.8:g.118477924A>G | NCBI36 |
| NG_008918.1:g.5072T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001382.3:c.-349T>C | NP_001373.2:n.-349T>C |
| ENST00000354202.8:c.-349T>C | ENSP00000346142.4:n.-349T>C |
| ENST00000409993.6:c.-123+100T>C | ENSP00000386597.2:n.-123+100T>C |
| ENST00000442480.1:c.132+236T>C | ENSP00000406591.1:n.132+236T>C |
| ENST00000481084.5:n.139T>C | |
| ENST00000682652.1:n.93T>C | |
| XM_005271422.2:c.-349T>C | XP_005271479.1:n.-349T>C |
| XM_011542648.1:c.-549T>C | XP_011540950.1:n.-549T>C |
| XR_947801.1:n.88T>C |