Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36676509G>C , CM000668.2:g.36676509G>C | GRCh38 |
| NC_000006.11:g.36644286G>C , CM000668.1:g.36644286G>C | GRCh37 |
| NC_000006.10:g.36752264G>C | NCBI36 |
| NG_009364.1:g.2828G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448526.6:c.-53G>C | ENSP00000409259.3:n.-53G>C | |
| ENST00000615513.4:c.-21G>C | ENSP00000482768.1:n.-21G>C | |
| NM_001220777.1:c.-21G>C | NP_001207706.1:n.-21G>C | |
| NM_078467.2:c.-53G>C | NP_510867.1:n.-53G>C | |
| NM_001220777.2:c.-21G>C | NP_001207706.1:n.-21G>C | |
| NM_001291549.3:c.-203G>C | NP_001278478.1:n.-203G>C | |
| NM_001374509.1:c.-111G>C | NP_001361438.1:n.-111G>C | |
| NM_001374510.1:c.-28G>C | NP_001361439.1:n.-28G>C | |
| NM_078467.3:c.-53G>C | NP_510867.1:n.-53G>C |