Linked Data
ClinVar Variation Id:
243025
dbSNP Id:
rs140614802
ExAC:
14:105207568 G / A
gnomAD v2:
14-105207568-G-A
gnomAD v3:
14-104741231-G-A
gnomAD v4:
14-104741231-G-A
COSMIC:
COSM1368545
PubMed:
PMID:26506222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104741231G>A , CM000676.2:g.104741231G>A | GRCh38 |
| NC_000014.8:g.105207568G>A , CM000676.1:g.105207568G>A | GRCh37 |
| NC_000014.7:g.104278613G>A | NCBI36 |
| NG_051175.1:g.22035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710323.1:c.781G>A | ENSP00000518203.1:p.Asp261Asn | |
| ENST00000330877.7:c.781G>A MANE Select | ENSP00000331260.2:p.Asp261Asn | |
| ENST00000330877.6:c.781G>A | ENSP00000331260.2:p.Asp261Asn | |
| ENST00000332972.9:c.910G>A | ENSP00000333019.5:p.Asp304Asn | |
| ENST00000553540.5:c.893G>A | ENSP00000450759.1:n.893G>A | |
| ENST00000555486.5:c.846G>A | ENSP00000473778.1:n.846G>A | |
| ENST00000557582.5:n.1702G>A | ||
| NM_152328.3:c.781G>A | NP_689541.1:p.Asp261Asn | |
| NM_199165.1:c.910G>A | NP_954634.1:p.Asp304Asn | |
| XM_006720026.2:c.784G>A | XP_006720089.1:p.Asp262Asn | |
| XM_011536412.1:c.913G>A | XP_011534714.1:p.Asp305Asn | |
| XM_011536413.1:c.598G>A | XP_011534715.1:p.Asp200Asn | |
| XM_011536414.1:c.595G>A | XP_011534716.1:p.Asp199Asn | |
| XM_011536415.1:c.166G>A | XP_011534717.1:p.Asp56Asn | |
| NM_001320424.1:c.166G>A | NP_001307353.1:p.Asp56Asn | |
| NM_152328.4:c.781G>A | NP_689541.1:p.Asp261Asn | |
| NM_199165.2:c.910G>A | NP_954634.1:p.Asp304Asn | |
| XM_006720026.3:c.784G>A | XP_006720089.1:p.Asp262Asn | |
| XM_011536412.2:c.913G>A | XP_011534714.1:p.Asp305Asn | |
| XR_001750917.1:n.478C>T | ||
| NM_152328.5:c.781G>A MANE Select | NP_689541.1:p.Asp261Asn |