dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45459541A>C , CM000681.2:g.45459541A>C | GRCh38 |
| NC_000019.9:g.45962799A>C , CM000681.1:g.45962799A>C | GRCh37 |
| NC_000019.8:g.50654639A>C | NCBI36 |
| NG_015839.2:g.24288T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423698.6:c.-8+19195T>G | ENSP00000394875.2:n.-8+19195T>G | |
| XM_005258636.3:c.-8+19195T>G | XP_005258693.1:n.-8+19195T>G | |
| XM_005258636.4:c.-8+19195T>G | XP_005258693.1:n.-8+19195T>G | |
| XM_017026464.1:c.-8+19195T>G | XP_016881953.1:n.-8+19195T>G |