gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124587345G>C , CM000672.2:g.124587345G>C | GRCh38 |
| NC_000010.10:g.126275914G>C , CM000672.1:g.126275914G>C | GRCh37 |
| NC_000010.9:g.126265904G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368842.10:c.717-25919G>C MANE Select | ENSP00000357835.5:n.717-25919G>C | |
| ENST00000368839.1:c.625-25919G>C | ENSP00000357832.1:n.625-25919G>C | |
| ENST00000368842.9:c.717-25919G>C | ENSP00000357835.5:n.717-25919G>C | |
| ENST00000482963.1:n.166-25919G>C | ||
| ENST00000493240.1:n.207-25919G>C | ||
| NM_001167880.1:c.625-25919G>C | NP_001161352.1:n.625-25919G>C | |
| NM_022126.3:c.717-25919G>C | NP_071409.3:n.717-25919G>C | |
| XM_005270026.2:c.832-25919G>C | XP_005270083.1:n.832-25919G>C | |
| XM_006717943.1:c.788+7532G>C | XP_006718006.1:n.788+7532G>C | |
| XM_011540056.1:c.*19+23925G>C | XP_011538358.1:n.*19+23925G>C | |
| XR_945797.1:n.835+23925G>C | ||
| NM_001318331.1:c.468-25919G>C | NP_001305260.1:n.468-25919G>C | |
| XM_005270026.4:c.832-25919G>C | XP_005270083.1:n.832-25919G>C | |
| NM_022126.4:c.717-25919G>C MANE Select | NP_071409.3:n.717-25919G>C | |
| NM_001167880.2:c.625-25919G>C | NP_001161352.1:n.625-25919G>C | |
| NM_001318331.2:c.468-25919G>C | NP_001305260.1:n.468-25919G>C |