Linked Data
ClinVar Variation Id:
371603
ClinVar RCV Id:
RCV000411642
dbSNP Id:
rs1057517402
gnomAD v2:
9-133370411-G-A
gnomAD v4:
9-130495024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130495024G>A , CM000671.2:g.130495024G>A | GRCh38 |
| NC_000009.11:g.133370411G>A , CM000671.1:g.133370411G>A | GRCh37 |
| NC_000009.10:g.132360232G>A | NCBI36 |
| NG_011542.1:g.55318G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.1127+1G>A MANE Select | ENSP00000253004.6:n.1127+1G>A | |
| ENST00000352480.9:c.1127+1G>A | ENSP00000253004.6:n.1127+1G>A | |
| ENST00000372386.6:n.398+1G>A | ||
| ENST00000372393.7:c.1127+1G>A | ENSP00000361469.2:n.1127+1G>A | |
| ENST00000372394.5:c.1127+1G>A | ENSP00000361471.1:n.1127+1G>A | |
| NM_000050.4:c.1127+1G>A | NP_000041.2:n.1127+1G>A | |
| NM_054012.3:c.1127+1G>A | NP_446464.1:n.1127+1G>A | |
| XM_005272200.2:c.1127+1G>A | XP_005272257.1:n.1127+1G>A | |
| XM_011518705.1:c.1241+1G>A | XP_011517007.1:n.1241+1G>A | |
| XR_930393.1:n.1060-2767C>T | ||
| XM_005272200.3:c.1127+1G>A | XP_005272257.1:n.1127+1G>A | |
| XM_011518705.2:c.1241+1G>A | XP_011517007.1:n.1241+1G>A | |
| XM_017014729.1:c.1223+1G>A | XP_016870218.1:n.1223+1G>A | |
| XR_930393.2:n.1102-2767C>T | ||
| NM_054012.4:c.1127+1G>A MANE Select | NP_446464.1:n.1127+1G>A |