Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143468166G>C , CM000668.2:g.143468166G>C | GRCh38 |
| NC_000006.11:g.143789303G>C , CM000668.1:g.143789303G>C | GRCh37 |
| NC_000006.10:g.143830996G>C | NCBI36 |
| NG_008459.1:g.22386G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.331+1G>C MANE Select | NP_003621.1:n.331+1G>C |
| ENST00000367591.5:c.331+1G>C MANE Select | ENSP00000356563.4:n.331+1G>C |
| NM_003630.2:c.331+1G>C | NP_003621.1:n.331+1G>C |
| ENST00000367591.4:c.331+1G>C | ENSP00000356563.4:n.331+1G>C |
| ENST00000367592.5:c.199+1G>C | ENSP00000356564.1:n.199+1G>C |