Linked Data
ClinVar Variation Id:
255086
dbSNP Id:
rs10858283
ExAC:
9:137708973 A / G
gnomAD v2:
9-137708973-A-G
gnomAD v3:
9-134817127-A-G
gnomAD v4:
9-134817127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134817127A>G , CM000671.2:g.134817127A>G | GRCh38 |
| NC_000009.11:g.137708973A>G , CM000671.1:g.137708973A>G | GRCh37 |
| NC_000009.10:g.136848794A>G | NCBI36 |
| NG_008030.1:g.180322A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4176+48A>G | ENSP00000360885.4:n.4176+48A>G | |
| ENST00000371817.8:c.4176+48A>G MANE Select | ENSP00000360882.3:n.4176+48A>G | |
| ENST00000371817.7:c.4176+48A>G | ENSP00000360882.3:n.4176+48A>G | |
| ENST00000618395.4:c.4176+48A>G | ENSP00000481360.1:n.4176+48A>G | |
| NM_000093.4:c.4176+48A>G | NP_000084.3:n.4176+48A>G | |
| NM_001278074.1:c.4176+48A>G | NP_001265003.1:n.4176+48A>G | |
| XR_929712.1:n.4578+48A>G | ||
| XR_929713.1:n.4578+48A>G | ||
| XM_017014266.2:c.4176+48A>G | XP_016869755.1:n.4176+48A>G | |
| XR_001746183.1:n.4574+48A>G | ||
| NM_000093.5:c.4176+48A>G MANE Select | NP_000084.3:n.4176+48A>G |