Linked Data
ClinVar Variation Id:
1253945
ClinVar RCV Id:
RCV001665088
dbSNP Id:
rs2736428
ExAC:
6:31843924 C / T
gnomAD v2:
6-31843924-C-T
gnomAD v3:
6-31876147-C-T
gnomAD v4:
6-31876147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31876147C>T , CM000668.2:g.31876147C>T | GRCh38 |
| NC_000006.11:g.31843924C>T , CM000668.1:g.31843924C>T | GRCh37 |
| NC_000006.10:g.31951903C>T | NCBI36 |
| NG_023058.1:g.7900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229729.11:c.90-18G>A MANE Select | ENSP00000229729.6:n.90-18G>A | |
| ENST00000229729.10:c.90-18G>A | ENSP00000229729.6:n.90-18G>A | |
| ENST00000375562.8:c.90-18G>A | ENSP00000364712.4:n.90-18G>A | |
| ENST00000414427.1:c.77-18G>A | ||
| ENST00000462671.1:n.107-18G>A | ||
| ENST00000465707.5:n.107-18G>A | ||
| ENST00000544672.5:c.-139-18G>A | ENSP00000444109.1:n.-139-18G>A | |
| NM_001178044.1:c.90-18G>A | NP_001171515.1:n.90-18G>A | |
| NM_001178045.1:c.-139-18G>A | NP_001171516.1:n.-139-18G>A | |
| NM_025257.2:c.90-18G>A | NP_079533.2:n.90-18G>A | |
| NM_025257.3:c.90-18G>A MANE Select | NP_079533.2:n.90-18G>A | |
| NM_001178044.2:c.90-18G>A | NP_001171515.1:n.90-18G>A | |
| NM_001178045.2:c.-139-18G>A | NP_001171516.1:n.-139-18G>A |