Linked Data
ClinVar Variation Id:
140800
ClinVar RCV Id:
RCV000128974
RCV000409539
RCV000481415
RCV000656750
RCV001731385
RCV003407537
RCV003764862
RCV003997468
dbSNP Id:
rs538230198
ExAC:
5:112178759 G / A
gnomAD v2:
5-112178759-G-A
gnomAD v3:
5-112843062-G-A
gnomAD v4:
5-112843062-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843062G>A , CM000667.2:g.112843062G>A | GRCh38 |
| NC_000005.9:g.112178759G>A , CM000667.1:g.112178759G>A | GRCh37 |
| NC_000005.8:g.112206658G>A | NCBI36 |
| NG_008481.4:g.155542G>A , LRG_130:g.155542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7522G>A | ENSP00000473355.2:p.Asp2508Asn | |
| ENST00000505350.2:c.*7474G>A | ENSP00000481752.1:n.*7474G>A | |
| ENST00000507379.6:c.7414G>A | ENSP00000423224.2:p.Asp2472Asn | |
| ENST00000509732.6:c.7468G>A | ENSP00000426541.2:p.Asp2490Asn | |
| ENST00000512211.7:c.7468G>A | ENSP00000423828.3:p.Asp2490Asn | |
| ENST00000257430.9:c.7468G>A MANE Select | ENSP00000257430.4:p.Asp2490Asn | |
| ENST00000257430.8:c.7468G>A | ENSP00000257430.4:p.Asp2490Asn | |
| ENST00000508376.6:c.7468G>A | ENSP00000427089.2:p.Asp2490Asn | |
| ENST00000520401.1:c.231-13587G>A | ||
| NM_000038.5:c.7468G>A | NP_000029.2:p.Asp2490Asn | |
| NM_001127510.2:c.7468G>A | NP_001120982.1:p.Asp2490Asn | |
| NM_001127511.2:c.7414G>A | NP_001120983.2:p.Asp2472Asn | |
| NM_001354895.1:c.7468G>A | NP_001341824.1:p.Asp2490Asn | |
| NM_001354896.1:c.7522G>A | NP_001341825.1:p.Asp2508Asn | |
| NM_001354897.1:c.7498G>A | NP_001341826.1:p.Asp2500Asn | |
| NM_001354898.1:c.7393G>A | NP_001341827.1:p.Asp2465Asn | |
| NM_001354899.1:c.7384G>A | NP_001341828.1:p.Asp2462Asn | |
| NM_001354900.1:c.7345G>A | NP_001341829.1:p.Asp2449Asn | |
| NM_001354901.1:c.7291G>A | NP_001341830.1:p.Asp2431Asn | |
| NM_001354902.1:c.7195G>A | NP_001341831.1:p.Asp2399Asn | |
| NM_001354903.1:c.7165G>A | NP_001341832.1:p.Asp2389Asn | |
| NM_001354904.1:c.7090G>A | NP_001341833.1:p.Asp2364Asn | |
| NM_001354905.1:c.6988G>A | NP_001341834.1:p.Asp2330Asn | |
| NM_001354906.1:c.6619G>A | NP_001341835.1:p.Asp2207Asn | |
| NM_000038.6:c.7468G>A MANE Select | NP_000029.2:p.Asp2490Asn | |
| NM_001127510.3:c.7468G>A | NP_001120982.1:p.Asp2490Asn | |
| NM_001127511.3:c.7414G>A | NP_001120983.2:p.Asp2472Asn | |
| NM_001354895.2:c.7468G>A | NP_001341824.1:p.Asp2490Asn | |
| NM_001354896.2:c.7522G>A | NP_001341825.1:p.Asp2508Asn | |
| NM_001354897.2:c.7498G>A | NP_001341826.1:p.Asp2500Asn | |
| NM_001354898.2:c.7393G>A | NP_001341827.1:p.Asp2465Asn | |
| NM_001354899.2:c.7384G>A | NP_001341828.1:p.Asp2462Asn | |
| NM_001354900.2:c.7345G>A | NP_001341829.1:p.Asp2449Asn | |
| NM_001354901.2:c.7291G>A | NP_001341830.1:p.Asp2431Asn | |
| NM_001354902.2:c.7195G>A | NP_001341831.1:p.Asp2399Asn | |
| NM_001354903.2:c.7165G>A | NP_001341832.1:p.Asp2389Asn | |
| NM_001354904.2:c.7090G>A | NP_001341833.1:p.Asp2364Asn | |
| NM_001354905.2:c.6988G>A | NP_001341834.1:p.Asp2330Asn | |
| NM_001354906.2:c.6619G>A | NP_001341835.1:p.Asp2207Asn |