Linked Data
ClinVar Variation Id:
239110
ClinVar RCV Id:
RCV000374787
RCV001085543
RCV000712154
RCV001097719
RCV001255129
RCV002317765
RCV004541386
dbSNP Id:
rs141553756
ExAC:
1:160012187 C / T
gnomAD v2:
1-160012187-C-T
gnomAD v3:
1-160042397-C-T
gnomAD v4:
1-160042397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042397C>T , CM000663.2:g.160042397C>T | GRCh38 |
| NC_000001.10:g.160012187C>T , CM000663.1:g.160012187C>T | GRCh37 |
| NC_000001.9:g.158278811C>T | NCBI36 |
| NG_016411.1:g.32775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.108G>A | ||
| ENST00000636689.1:n.95-3049G>A | ||
| ENST00000637644.1:c.136G>A | ENSP00000490282.1:p.Asp46Asn | |
| ENST00000638728.1:c.136G>A | ENSP00000492619.1:p.Asp46Asn | |
| ENST00000638868.1:c.136G>A | ENSP00000491250.1:p.Asp46Asn | |
| ENST00000639408.1:c.136G>A | ENSP00000491635.1:p.Asp46Asn | |
| ENST00000640017.1:c.106G>A | ENSP00000491337.1:p.Asp36Asn | |
| ENST00000644903.1:c.136G>A MANE Select | ENSP00000495557.1:p.Asp46Asn | |
| ENST00000368089.3:c.136G>A | ENSP00000357068.3:p.Asp46Asn | |
| NM_002241.4:c.136G>A | NP_002232.2:p.Asp46Asn | |
| NM_002241.5:c.136G>A MANE Select | NP_002232.2:p.Asp46Asn |