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