Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32028676G>C , CM000677.2:g.32028676G>C | GRCh38 |
| NC_000015.9:g.32320879G>C , CM000677.1:g.32320879G>C | GRCh37 |
| NC_000015.8:g.30108171G>C | NCBI36 |
| NG_009216.1:g.3154G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635978.1:c.-42-72627G>C | ENSP00000490778.1:n.-42-72627G>C | |
| ENST00000636603.1:c.-131-2222G>C | ENSP00000490513.1:n.-131-2222G>C | |
| ENST00000637183.1:c.-43+50482G>C | ENSP00000490365.1:n.-43+50482G>C | |
| ENST00000638106.1:c.-378-2222G>C | ENSP00000490413.1:n.-378-2222G>C | |
| XM_011522320.1:c.573-69C>G | XP_011520622.1:n.573-69C>G | |
| XM_011522320.2:c.573-69C>G | XP_011520622.1:n.573-69C>G |