Linked Data
ClinVar Variation Id:
2912624
ClinVar RCV Id:
RCV003756509
dbSNP Id:
rs1413309758
gnomAD v2:
4-995687-G-A
gnomAD v3:
4-1001899-G-A
gnomAD v4:
4-1001899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001899G>A , CM000666.2:g.1001899G>A | GRCh38 |
| NC_000004.11:g.995687G>A , CM000666.1:g.995687G>A | GRCh37 |
| NC_000004.10:g.985687G>A | NCBI36 |
| NG_008103.1:g.19903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.792+18G>A | ENSP00000247933.4:n.792+18G>A | |
| ENST00000514224.2:c.792+18G>A MANE Select | ENSP00000425081.2:n.792+18G>A | |
| ENST00000652070.1:n.848+18G>A | ||
| ENST00000247933.8:c.792+18G>A | ENSP00000247933.4:n.792+18G>A | |
| ENST00000502910.5:c.651+18G>A | ENSP00000422952.1:n.651+18G>A | |
| ENST00000514192.5:c.609+18G>A | ENSP00000423685.1:n.609+18G>A | |
| ENST00000514224.1:c.396+18G>A | ENSP00000425081.1:n.396+18G>A | |
| ENST00000514698.5:n.710G>A | ||
| NM_000203.4:c.792+18G>A | NP_000194.2:n.792+18G>A | |
| NR_110313.1:n.880+18G>A | ||
| XM_006713882.2:c.396+18G>A | XP_006713945.1:n.396+18G>A | |
| XM_011513459.1:c.669G>A | XP_011511761.1:p.Pro223= | |
| XM_011513460.1:c.651+18G>A | XP_011511762.1:n.651+18G>A | |
| XM_011513461.1:c.585+18G>A | XP_011511763.1:n.585+18G>A | |
| XM_011513462.1:c.504+18G>A | XP_011511764.1:n.504+18G>A | |
| XM_011513463.1:c.504+18G>A | XP_011511765.1:n.504+18G>A | |
| XR_924947.1:n.861+18G>A | ||
| NM_000203.5:c.792+18G>A MANE Select | NP_000194.2:n.792+18G>A | |
| NM_001363576.1:c.396+18G>A | NP_001350505.1:n.396+18G>A | |
| XM_011513461.2:c.585+18G>A | XP_011511763.1:n.585+18G>A | |
| XM_017008163.1:c.-169+18G>A | XP_016863652.1:n.-169+18G>A |