Linked Data
ClinVar Variation Id:
1401
ClinVar RCV Id:
RCV000001466
dbSNP Id:
rs786205058
gnomAD v2:
22-37469571-C-T
gnomAD v4:
22-37073531-C-T
PubMed:
PMID:18408718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37073531C>T , CM000684.2:g.37073531C>T | GRCh38 |
| NC_000022.10:g.37469571C>T , CM000684.1:g.37469571C>T | GRCh37 |
| NC_000022.9:g.35799517C>T | NCBI36 |
| NG_012856.2:g.41033G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346753.9:c.1555+1G>A | ENSP00000334962.6:n.1555+1G>A | |
| ENST00000406725.6:c.1555+1G>A | ENSP00000385453.1:n.1555+1G>A | |
| ENST00000406856.7:c.1555+1G>A | ENSP00000384964.1:n.1555+1G>A | |
| ENST00000676104.1:c.1555+1G>A MANE Select | ENSP00000501573.1:n.1555+1G>A | |
| ENST00000346753.7:c.1582+1G>A | ENSP00000334962.5:n.1582+1G>A | |
| ENST00000381792.6:c.1555+1G>A | ENSP00000371211.2:n.1555+1G>A | |
| ENST00000406725.5:c.1555+1G>A | ENSP00000385453.1:n.1555+1G>A | |
| ENST00000406856.5:c.1555+1G>A | ENSP00000384964.1:n.1555+1G>A | |
| NM_001289000.1:c.1555+1G>A | NP_001275929.1:n.1555+1G>A | |
| NM_001289001.1:c.1555+1G>A | NP_001275930.1:n.1555+1G>A | |
| NM_153609.3:c.1582+1G>A | NP_705837.1:n.1582+1G>A | |
| XM_006724162.1:c.1555+1G>A | XP_006724225.1:n.1555+1G>A | |
| XM_006724163.2:c.1555+1G>A | XP_006724226.1:n.1555+1G>A | |
| XM_011529987.1:c.1555+1G>A | XP_011528289.1:n.1555+1G>A | |
| XM_011529988.1:c.1555+1G>A | XP_011528290.1:n.1555+1G>A | |
| XM_011529989.1:c.1123+1G>A | XP_011528291.1:n.1123+1G>A | |
| XM_011529989.2:c.1123+1G>A | XP_011528291.1:n.1123+1G>A | |
| XM_024452167.1:c.1555+1G>A | XP_024307935.1:n.1555+1G>A | |
| XM_024452168.1:c.1555+1G>A | XP_024307936.1:n.1555+1G>A | |
| XM_024452169.1:c.1555+1G>A | XP_024307937.1:n.1555+1G>A | |
| XM_024452170.1:c.1555+1G>A | XP_024307938.1:n.1555+1G>A | |
| XM_024452171.1:c.1555+1G>A | XP_024307939.1:n.1555+1G>A | |
| NM_001289000.2:c.1555+1G>A | NP_001275929.1:n.1555+1G>A | |
| NM_001289001.2:c.1555+1G>A | NP_001275930.1:n.1555+1G>A | |
| NM_001374504.1:c.1555+1G>A MANE Select | NP_001361433.1:n.1555+1G>A | |
| NM_153609.4:c.1555+1G>A | NP_705837.2:n.1555+1G>A |