Linked Data
ClinVar Variation Id:
432092
ClinVar RCV Id:
RCV000498757
dbSNP Id:
rs1553255775
gnomAD v4:
1-209938278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209938278G>A , CM000663.2:g.209938278G>A | GRCh38 |
| NC_000001.10:g.210111623G>A , CM000663.1:g.210111623G>A | GRCh37 |
| NC_000001.9:g.208178246G>A | NCBI36 |
| NG_031962.1:g.5105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367019.6:c.13+1G>A MANE Select | ENSP00000355986.1:n.13+1G>A | |
| ENST00000699295.1:c.-1242+1G>A | ENSP00000514275.1:n.-1242+1G>A | |
| ENST00000637265.1:c.-534+1G>A | ENSP00000489897.1:n.-534+1G>A | |
| ENST00000637945.1:c.13+1G>A | ENSP00000489671.1:n.13+1G>A | |
| ENST00000652023.1:n.52-14431G>A | ||
| ENST00000367019.5:c.13+1G>A | ENSP00000355986.1:n.13+1G>A | |
| ENST00000399639.6:c.-307+1G>A | ENSP00000445837.2:n.-307+1G>A | |
| ENST00000472886.5:c.13+1G>A | ENSP00000418901.1:n.13+1G>A | |
| ENST00000537238.5:c.-307+1G>A | ENSP00000437423.1:n.-307+1G>A | |
| ENST00000629778.2:c.27+1G>A | ENSP00000486230.1:n.27+1G>A | |
| NM_001146261.2:c.27+1G>A | NP_001139733.1:n.27+1G>A | |
| NM_001146262.2:c.13+1G>A | NP_001139734.1:n.13+1G>A | |
| NM_001146264.2:c.27+1G>A | NP_001139736.1:n.27+1G>A | |
| NM_001256006.1:c.-307+1G>A | NP_001242935.1:n.-307+1G>A | |
| NM_153262.3:c.13+1G>A | NP_694994.2:n.13+1G>A | |
| NR_027459.2:n.104+1G>A | ||
| XM_017000932.2:c.-307+1G>A | XP_016856421.1:n.-307+1G>A | |
| XM_017000933.2:c.-243+1G>A | XP_016856422.1:n.-243+1G>A | |
| XM_017000935.2:c.-424+1G>A | XP_016856424.1:n.-424+1G>A | |
| NM_001146262.3:c.13+1G>A | NP_001139734.1:n.13+1G>A | |
| NM_001146264.3:c.27+1G>A | NP_001139736.1:n.27+1G>A | |
| NM_153262.4:c.13+1G>A | NP_694994.2:n.13+1G>A | |
| NR_027459.3:n.61+1G>A | ||
| NM_001146261.3:c.27+1G>A | NP_001139733.1:n.27+1G>A | |
| NM_001256006.2:c.-307+1G>A | NP_001242935.1:n.-307+1G>A | |
| NM_001146261.4:c.27+1G>A | NP_001139733.1:n.27+1G>A | |
| NM_001146262.4:c.13+1G>A MANE Select | NP_001139734.1:n.13+1G>A | |
| NM_001146264.4:c.27+1G>A | NP_001139736.1:n.27+1G>A | |
| NM_001256006.3:c.-307+1G>A | NP_001242935.1:n.-307+1G>A | |
| NM_001397544.1:c.-1037+1G>A | NP_001384473.1:n.-1037+1G>A | |
| NM_001397545.1:c.-1242+1G>A | NP_001384474.1:n.-1242+1G>A | |
| NM_153262.5:c.13+1G>A | NP_694994.2:n.13+1G>A |