dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.130228918C>G , CM000668.2:g.130228918C>G | GRCh38 |
| NC_000006.11:g.130550063C>G , CM000668.1:g.130550063C>G | GRCh37 |
| NC_000006.10:g.130591756C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368134.6:c.-187-6105G>C | ENSP00000357116.2:n.-187-6105G>C | |
| ENST00000529119.1:n.70-6105G>C | ||
| NM_001258275.2:c.-187-6105G>C | NP_001245204.1:n.-187-6105G>C | |
| XM_024446334.1:c.-187-6105G>C | XP_024302102.1:n.-187-6105G>C | |
| XM_024446335.1:c.-187-6105G>C | XP_024302103.1:n.-187-6105G>C | |
| NM_001258275.3:c.-187-6105G>C | NP_001245204.1:n.-187-6105G>C |