Linked Data
ClinVar Variation Id:
44274
ClinVar RCV Id:
RCV000056815
RCV000245347
RCV000475003
RCV000770171
RCV001137623
RCV001137622
RCV001293064
RCV002265577
dbSNP Id:
rs34337334
ExAC:
2:220285586 G / A
gnomAD v2:
2-220285586-G-A
gnomAD v3:
2-219420864-G-A
gnomAD v4:
2-219420864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420864G>A , CM000664.2:g.219420864G>A | GRCh38 |
| NC_000002.11:g.220285586G>A , CM000664.1:g.220285586G>A | GRCh37 |
| NC_000002.10:g.219993830G>A | NCBI36 |
| NG_008043.1:g.7488G>A , LRG_380:g.7488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.408G>A | ||
| ENST00000683013.1:n.322G>A | ||
| ENST00000373960.4:c.934G>A MANE Select | ENSP00000363071.3:p.Asp312Asn | |
| ENST00000373960.3:c.934G>A | ENSP00000363071.3:p.Asp312Asn | |
| ENST00000477226.5:n.406G>A | ||
| ENST00000492726.1:n.329G>A | ||
| NM_001927.3:c.934G>A , LRG_380t1:c.934G>A | NP_001918.3:p.Asp312Asn | |
| NM_001927.4:c.934G>A MANE Select | NP_001918.3:p.Asp312Asn | |
| NM_001382708.1:c.931G>A | NP_001369637.1:p.Asp311Asn | |
| NM_001382709.1:c.735+518G>A | NP_001369638.1:n.735+518G>A | |
| NM_001382710.1:c.934G>A | NP_001369639.1:p.Asp312Asn | |
| NM_001382711.1:c.934G>A | NP_001369640.1:p.Asp312Asn | |
| NM_001382712.1:c.934G>A | NP_001369641.1:p.Asp312Asn | |
| NM_001382713.1:c.664G>A | NP_001369642.1:p.Asp222Asn |