ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002945G>A , CM000666.2:g.1002945G>A | GRCh38 |
| NC_000004.11:g.996733G>A , CM000666.1:g.996733G>A | GRCh37 |
| NC_000004.10:g.986733G>A | NCBI36 |
| NG_008103.1:g.20949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1402+1G>A | ENSP00000247933.4:n.1402+1G>A | |
| ENST00000514224.2:c.1402+1G>A MANE Select | ENSP00000425081.2:n.1402+1G>A | |
| ENST00000652070.1:n.1458+1G>A | ||
| ENST00000247933.8:c.1402+1G>A | ENSP00000247933.4:n.1402+1G>A | |
| ENST00000502829.1:n.204+1G>A | ||
| ENST00000514224.1:c.1006+1G>A | ENSP00000425081.1:n.1006+1G>A | |
| ENST00000514698.5:n.1509+1G>A | ||
| NM_000203.4:c.1402+1G>A | NP_000194.2:n.1402+1G>A | |
| NR_110313.1:n.1490+1G>A | ||
| XM_006713882.2:c.1006+1G>A | XP_006713945.1:n.1006+1G>A | |
| XM_011513459.1:c.1468+1G>A | XP_011511761.1:n.1468+1G>A | |
| XM_011513460.1:c.1261+1G>A | XP_011511762.1:n.1261+1G>A | |
| XM_011513461.1:c.1195+1G>A | XP_011511763.1:n.1195+1G>A | |
| XM_011513462.1:c.1114+1G>A | XP_011511764.1:n.1114+1G>A | |
| XM_011513463.1:c.1114+1G>A | XP_011511765.1:n.1114+1G>A | |
| XR_924947.1:n.1471+1G>A | ||
| NM_000203.5:c.1402+1G>A MANE Select | NP_000194.2:n.1402+1G>A | |
| NM_001363576.1:c.1006+1G>A | NP_001350505.1:n.1006+1G>A | |
| XM_011513461.2:c.1195+1G>A | XP_011511763.1:n.1195+1G>A | |
| XM_017008163.1:c.442+1G>A | XP_016863652.1:n.442+1G>A |