Linked Data
ClinVar Variation Id:
761497
ClinVar RCV Id:
RCV000939550
dbSNP Id:
rs1455459442
gnomAD v2:
1-27434129-T-A
gnomAD v3:
1-27107638-T-A
gnomAD v4:
1-27107638-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27107638T>A , CM000663.2:g.27107638T>A | GRCh38 |
| NC_000001.10:g.27434129T>A , CM000663.1:g.27434129T>A | GRCh37 |
| NC_000001.9:g.27306716T>A | NCBI36 |
| NG_030006.1:g.52323A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.1282+10A>T MANE Select | ENSP00000263980.3:n.1282+10A>T | |
| ENST00000263980.7:c.1282+10A>T | ENSP00000263980.3:n.1282+10A>T | |
| ENST00000374086.3:c.1282+10A>T | ENSP00000363199.3:n.1282+10A>T | |
| NM_003047.4:c.1282+10A>T | NP_003038.2:n.1282+10A>T | |
| NR_046474.1:n.1617+10A>T | ||
| XM_011542021.1:c.952+10A>T | XP_011540323.1:n.952+10A>T | |
| XM_011542021.3:c.952+10A>T | XP_011540323.1:n.952+10A>T | |
| NM_003047.5:c.1282+10A>T MANE Select | NP_003038.2:n.1282+10A>T | |
| NR_046474.2:n.1612+10A>T |