Linked Data
ClinVar Variation Id:
1232058
ClinVar RCV Id:
RCV001612690
dbSNP Id:
rs1893592
ExAC:
21:43855067 A / C
gnomAD v2:
21-43855067-A-C
gnomAD v3:
21-42434957-A-C
gnomAD v4:
21-42434957-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42434957A>C , CM000683.2:g.42434957A>C | GRCh38 |
| NC_000021.8:g.43855067A>C , CM000683.1:g.43855067A>C | GRCh37 |
| NC_000021.7:g.42728136A>C | NCBI36 |
| NG_029750.1:g.36097A>C | |
| NG_029750.2:g.36096A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319294.11:c.1393+3A>C MANE Select | ENSP00000317327.6:n.1393+3A>C | |
| ENST00000291535.11:c.1279+3A>C | ENSP00000291535.6:n.1279+3A>C | |
| ENST00000319294.10:c.1393+3A>C | ENSP00000317327.6:n.1393+3A>C | |
| ENST00000398367.1:c.1279+3A>C | ENSP00000381408.1:n.1279+3A>C | |
| ENST00000473381.1:c.1282A>C | ENSP00000489235.1:p.Met428Leu | |
| ENST00000635325.1:c.1279+3A>C | ENSP00000489463.1:n.1279+3A>C | |
| NM_001001895.2:c.1279+3A>C | NP_001001895.1:n.1279+3A>C | |
| NM_001243467.1:c.1279+3A>C | NP_001230396.1:n.1279+3A>C | |
| NM_018961.3:c.1393+3A>C | NP_061834.1:n.1393+3A>C | |
| XM_006724013.2:c.1336+3A>C | XP_006724076.1:n.1336+3A>C | |
| XM_011529605.1:c.1393+3A>C | XP_011527907.1:n.1393+3A>C | |
| XM_011529606.1:c.988+3A>C | XP_011527908.1:n.988+3A>C | |
| XM_011529607.1:c.988+3A>C | XP_011527909.1:n.988+3A>C | |
| XM_011529608.1:c.1393+3A>C | XP_011527910.1:n.1393+3A>C | |
| XM_011529609.1:c.1393+3A>C | XP_011527911.1:n.1393+3A>C | |
| XM_011529610.1:c.577+3A>C | XP_011527912.1:n.577+3A>C | |
| XR_244316.1:n.1363+3A>C | ||
| XR_937510.1:n.1366A>C | ||
| XM_006724013.3:c.1336+3A>C | XP_006724076.1:n.1336+3A>C | |
| XM_011529605.3:c.1393+3A>C | XP_011527907.1:n.1393+3A>C | |
| XM_011529606.3:c.988+3A>C | XP_011527908.1:n.988+3A>C | |
| XM_011529607.2:c.988+3A>C | XP_011527909.1:n.988+3A>C | |
| XM_011529609.2:c.1393+3A>C | XP_011527911.1:n.1393+3A>C | |
| XM_011529610.2:c.577+3A>C | XP_011527912.1:n.577+3A>C | |
| XR_244316.2:n.1345+3A>C | ||
| NM_018961.4:c.1393+3A>C MANE Select | NP_061834.1:n.1393+3A>C | |
| NM_001001895.3:c.1279+3A>C | NP_001001895.1:n.1279+3A>C | |
| NM_001243467.2:c.1279+3A>C | NP_001230396.1:n.1279+3A>C |