Linked Data
ClinVar Variation Id:
427149
ClinVar RCV Id:
RCV002527036
dbSNP Id:
rs1085307987
gnomAD v2:
21-34015719-C-T
gnomAD v4:
21-32643409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32643409C>T , CM000683.2:g.32643409C>T | GRCh38 |
| NC_000021.8:g.34015719C>T , CM000683.1:g.34015719C>T | GRCh37 |
| NC_000021.7:g.32937590C>T | NCBI36 |
| NG_030017.1:g.89633G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382499.7:c.3595+1G>A | ENSP00000371939.2:n.3595+1G>A | |
| ENST00000433931.7:c.3595+1G>A | ENSP00000409667.2:n.3595+1G>A | |
| ENST00000630077.3:c.3377-1443G>A | ENSP00000487560.1:n.3377-1443G>A | |
| ENST00000674204.1:c.3478+1G>A | ENSP00000501504.1:n.3478+1G>A | |
| ENST00000674308.1:c.3478+1G>A | ENSP00000501426.1:n.3478+1G>A | |
| ENST00000674351.1:c.3478+1G>A MANE Select | ENSP00000501530.1:n.3478+1G>A | |
| ENST00000357345.7:c.3431-1276G>A | ENSP00000349903.3:n.3431-1276G>A | |
| ENST00000382491.7:c.3377-1443G>A | ENSP00000371931.4:n.3377-1443G>A | |
| ENST00000382499.6:c.3595+1G>A | ENSP00000371939.2:n.3595+1G>A | |
| ENST00000433931.6:c.3595+1G>A | ENSP00000409667.2:n.3595+1G>A | |
| ENST00000438952.5:c.105-1276G>A | ||
| ENST00000630077.2:c.3377-1443G>A | ENSP00000487560.1:n.3377-1443G>A | |
| NM_001160302.1:c.3431-1276G>A | NP_001153774.1:n.3431-1276G>A | |
| NM_001160306.1:c.3377-1443G>A | NP_001153778.1:n.3377-1443G>A | |
| NM_003895.3:c.3595+1G>A | NP_003886.3:n.3595+1G>A | |
| NM_203446.2:c.3595+1G>A | NP_982271.2:n.3595+1G>A | |
| XM_017028494.1:c.3431-1276G>A | XP_016883983.1:n.3431-1276G>A | |
| XM_017028495.2:c.3580+1G>A | XP_016883984.1:n.3580+1G>A | |
| XM_017028496.1:c.3392-1276G>A | XP_016883985.1:n.3392-1276G>A | |
| XM_017028497.2:c.3548-1276G>A | XP_016883986.1:n.3548-1276G>A | |
| XM_017028498.1:c.3392-1443G>A | XP_016883987.1:n.3392-1443G>A | |
| XM_017028499.2:c.3494-1443G>A | XP_016883988.1:n.3494-1443G>A | |
| XM_017028500.1:c.3478+1G>A | XP_016883989.1:n.3478+1G>A | |
| XM_017028501.1:c.3478+1G>A | XP_016883990.1:n.3478+1G>A | |
| XM_017028502.1:c.3431-1276G>A | XP_016883991.1:n.3431-1276G>A | |
| XM_017028503.1:c.3392-1276G>A | XP_016883992.1:n.3392-1276G>A | |
| XM_017028504.1:c.3392-1443G>A | XP_016883993.1:n.3392-1443G>A | |
| XM_017028505.2:c.3494-1443G>A | XP_016883994.1:n.3494-1443G>A | |
| NM_001160306.2:c.3377-1443G>A | NP_001153778.1:n.3377-1443G>A | |
| NM_203446.3:c.3478+1G>A MANE Select | NP_982271.3:n.3478+1G>A |