Linked Data
ClinVar Variation Id:
1418030
ClinVar RCV Id:
RCV001951932
dbSNP Id:
rs1232135247
gnomAD v2:
2-175618973-C-T
gnomAD v3:
2-174754245-C-T
gnomAD v4:
2-174754245-C-T
COSMIC:
COSM4401735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174754245C>T , CM000664.2:g.174754245C>T | GRCh38 |
| NC_000002.11:g.175618973C>T , CM000664.1:g.175618973C>T | GRCh37 |
| NC_000002.10:g.175327219C>T | NCBI36 |
| NG_008172.1:g.15228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.25G>A | ENSP00000490338.2:p.Asp9Asn | |
| ENST00000672640.1:c.25G>A | ENSP00000500507.1:p.Asp9Asn | |
| ENST00000261007.9:c.589G>A | ENSP00000261007.5:p.Asp197Asn | |
| ENST00000348749.9:c.514G>A MANE Select | ENSP00000261008.5:p.Asp172Asn | |
| ENST00000409219.5:c.514G>A | ENSP00000386611.1:p.Asp172Asn | |
| ENST00000409323.1:c.514G>A | ENSP00000386684.1:p.Asp172Asn | |
| ENST00000409542.5:c.268G>A | ENSP00000387026.1:p.Asp90Asn | |
| ENST00000435083.5:c.*158G>A | ENSP00000395805.1:n.*158G>A | |
| NM_000079.3:c.514G>A | NP_000070.1:p.Asp172Asn | |
| NM_001039523.2:c.589G>A | NP_001034612.1:p.Asp197Asn | |
| XM_017003256.1:c.610G>A | XP_016858745.1:p.Asp204Asn | |
| XM_017003257.1:c.535G>A | XP_016858746.1:p.Asp179Asn | |
| NM_000079.4:c.514G>A MANE Select | NP_000070.1:p.Asp172Asn | |
| NM_001039523.3:c.589G>A | NP_001034612.1:p.Asp197Asn |