Linked Data
ClinVar Variation Id:
2884321
ClinVar RCV Id:
RCV003724332
dbSNP Id:
rs748935620
ExAC:
3:14190428 G / A
gnomAD v2:
3-14190428-G-A
gnomAD v3:
3-14148928-G-A
gnomAD v4:
3-14148928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148928G>A , CM000665.2:g.14148928G>A | GRCh38 |
| NC_000003.11:g.14190428G>A , CM000665.1:g.14190428G>A | GRCh37 |
| NC_000003.10:g.14165429G>A | NCBI36 |
| NG_011763.1:g.34745C>T , LRG_472:g.34745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2136C>T MANE Select | ENSP00000285021.8:p.Asn712= | |
| ENST00000285021.11:c.2136C>T | ENSP00000285021.7:p.Asn712= | |
| ENST00000427795.2:n.1C>T | ||
| ENST00000476581.6:c.*1589C>T | ENSP00000424548.1:n.*1589C>T | |
| NM_004628.4:c.2136C>T , LRG_472t1:c.2136C>T | NP_004619.3:p.Asn712= | |
| NR_027299.1:n.2116C>T | ||
| XM_011534092.1:c.2136C>T | XP_011532394.1:p.Asn712= | |
| NM_001354726.1:c.1557C>T | NP_001341655.1:p.Asn519= | |
| NM_001354727.1:c.2130C>T | NP_001341656.1:p.Asn710= | |
| NM_001354729.1:c.2118C>T | NP_001341658.1:p.Asn706= | |
| NM_001354730.1:c.1890C>T | NP_001341659.1:p.Asn630= | |
| NR_148950.1:n.2079C>T | ||
| NR_148951.1:n.1955C>T | ||
| XR_001740256.2:n.2169C>T | ||
| XR_002959580.1:n.2169C>T | ||
| XR_002959581.1:n.3786C>T | ||
| NM_001354727.2:c.2130C>T | NP_001341656.1:p.Asn710= | |
| NM_004628.5:c.2136C>T MANE Select | NP_004619.3:p.Asn712= | |
| NR_148950.2:n.2008C>T | ||
| NR_148951.2:n.1884C>T | ||
| NM_001354726.2:c.1557C>T | NP_001341655.1:p.Asn519= | |
| NM_001354729.2:c.2118C>T | NP_001341658.1:p.Asn706= | |
| NM_001354730.2:c.1890C>T | NP_001341659.1:p.Asn630= |