Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033809T>C , CM000670.2:g.31033809T>C | GRCh38 |
| NC_000008.10:g.30891325T>C , CM000670.1:g.30891325T>C | GRCh37 |
| NC_000008.9:g.31010867T>C | NCBI36 |
| NG_008870.1:g.5548T>C , LRG_524:g.5548T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650667.1:c.-241T>C | ENSP00000498593.1:n.-241T>C | |
| ENST00000298139.5:c.-241T>C | ENSP00000298139.5:n.-241T>C | |
| NM_000553.4:c.-241T>C , LRG_524t1:c.-241T>C | NP_000544.2:n.-241T>C | |
| XM_011544639.1:c.-241T>C | XP_011542941.1:n.-241T>C | |
| XR_949470.1:n.33T>C | ||
| XR_949471.1:n.33T>C | ||
| XR_949472.1:n.33T>C | ||
| NM_000553.5:c.-241T>C | NP_000544.2:n.-241T>C | |
| XM_011544639.3:c.-241T>C | XP_011542941.1:n.-241T>C | |
| XM_024447265.1:c.-575T>C | XP_024303033.1:n.-575T>C | |
| XR_949470.3:n.61T>C | ||
| XR_949471.3:n.61T>C | ||
| XR_949472.3:n.61T>C |