Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132199273C>G , CM000674.2:g.132199273C>G | GRCh38 |
| NC_000012.11:g.132683818C>G , CM000674.1:g.132683818C>G | GRCh37 |
| NC_000012.10:g.131249771C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328957.13:c.1402-4G>C MANE Select | ENSP00000329846.8:n.1402-4G>C | |
| ENST00000328957.12:c.1402-4G>C | ENSP00000329846.8:n.1402-4G>C | |
| ENST00000397325.6:c.304-4G>C | ENSP00000380488.2:n.304-4G>C | |
| ENST00000411988.6:c.719-4G>C | ||
| ENST00000541995.5:c.304-4G>C | ENSP00000440544.1:n.304-4G>C | |
| NM_001122636.1:c.1402-4G>C | NP_001116108.1:n.1402-4G>C | |
| NM_021808.3:c.304-4G>C | NP_068580.2:n.304-4G>C | |
| NM_001122636.2:c.1402-4G>C MANE Select | NP_001116108.1:n.1402-4G>C |