Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135054853G>C , CM000668.2:g.135054853G>C | GRCh38 |
| NC_000006.11:g.135375991G>C , CM000668.1:g.135375991G>C | GRCh37 |
| NC_000006.10:g.135417684G>C | NCBI36 |
| NG_012002.1:g.5046C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367822.9:c.-162C>G | ENSP00000356796.5:n.-162C>G | |
| ENST00000367837.9:c.-162C>G | ENSP00000356811.5:n.-162C>G | |
| ENST00000529882.5:c.89-4206C>G | ENSP00000433030.1:n.89-4206C>G | |
| NM_001145158.1:c.-162C>G | NP_001138630.1:n.-162C>G | |
| NM_001145207.1:c.-162C>G | NP_001138679.1:n.-162C>G | |
| NM_006620.3:c.-162C>G | NP_006611.1:n.-162C>G | |
| NM_001363686.1:c.-800C>G | NP_001350615.1:n.-800C>G |