Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36676479T>C , CM000668.2:g.36676479T>C | GRCh38 |
| NC_000006.11:g.36644256T>C , CM000668.1:g.36644256T>C | GRCh37 |
| NC_000006.10:g.36752234T>C | NCBI36 |
| NG_009364.1:g.2798T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615513.4:c.-51T>C | ENSP00000482768.1:n.-51T>C | |
| NM_001220777.1:c.-51T>C | NP_001207706.1:n.-51T>C | |
| NM_001220777.2:c.-51T>C | NP_001207706.1:n.-51T>C | |
| NM_001291549.3:c.-233T>C | NP_001278478.1:n.-233T>C | |
| NM_001374509.1:c.-141T>C | NP_001361438.1:n.-141T>C | |
| NM_001374510.1:c.-58T>C | NP_001361439.1:n.-58T>C | |
| NM_078467.3:c.-83T>C | NP_510867.1:n.-83T>C |