Linked Data
ClinVar Variation Id:
1249229
ClinVar RCV Id:
RCV001656750
dbSNP Id:
rs11966200
ExAC:
6:31837066 C / T
gnomAD v2:
6-31837066-C-T
gnomAD v3:
6-31869289-C-T
gnomAD v4:
6-31869289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31869289C>T , CM000668.2:g.31869289C>T | GRCh38 |
| NC_000006.11:g.31837066C>T , CM000668.1:g.31837066C>T | GRCh37 |
| NC_000006.10:g.31945045C>T | NCBI36 |
| NG_023058.1:g.14758G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229729.11:c.1131-32G>A MANE Select | ENSP00000229729.6:n.1131-32G>A | |
| ENST00000229729.10:c.1131-32G>A | ENSP00000229729.6:n.1131-32G>A | |
| ENST00000375562.8:c.1005-32G>A | ENSP00000364712.4:n.1005-32G>A | |
| ENST00000414427.1:c.782-32G>A | ||
| ENST00000479777.1:n.485-32G>A | ||
| ENST00000544672.5:c.903-32G>A | ENSP00000444109.1:n.903-32G>A | |
| NM_001178044.1:c.1005-32G>A | NP_001171515.1:n.1005-32G>A | |
| NM_001178045.1:c.903-32G>A | NP_001171516.1:n.903-32G>A | |
| NM_025257.2:c.1131-32G>A | NP_079533.2:n.1131-32G>A | |
| NM_025257.3:c.1131-32G>A MANE Select | NP_079533.2:n.1131-32G>A | |
| NM_001178044.2:c.1005-32G>A | NP_001171515.1:n.1005-32G>A | |
| NM_001178045.2:c.903-32G>A | NP_001171516.1:n.903-32G>A |