Linked Data
ClinVar Variation Id:
236649
dbSNP Id:
rs747339588
ExAC:
5:112179084 C / A
gnomAD v2:
5-112179084-C-A
gnomAD v3:
5-112843387-C-A
gnomAD v4:
5-112843387-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843387C>A , CM000667.2:g.112843387C>A | GRCh38 |
| NC_000005.9:g.112179084C>A , CM000667.1:g.112179084C>A | GRCh37 |
| NC_000005.8:g.112206983C>A | NCBI36 |
| NG_008481.4:g.155867C>A , LRG_130:g.155867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7847C>A | ENSP00000473355.2:p.Thr2616Asn | |
| ENST00000505350.2:c.*7799C>A | ENSP00000481752.1:n.*7799C>A | |
| ENST00000507379.6:c.7739C>A | ENSP00000423224.2:p.Thr2580Asn | |
| ENST00000509732.6:c.7793C>A | ENSP00000426541.2:p.Thr2598Asn | |
| ENST00000512211.7:c.7793C>A | ENSP00000423828.3:p.Thr2598Asn | |
| ENST00000257430.9:c.7793C>A MANE Select | ENSP00000257430.4:p.Thr2598Asn | |
| ENST00000257430.8:c.7793C>A | ENSP00000257430.4:p.Thr2598Asn | |
| ENST00000508376.6:c.7793C>A | ENSP00000427089.2:p.Thr2598Asn | |
| ENST00000520401.1:c.231-13262C>A | ||
| NM_000038.5:c.7793C>A | NP_000029.2:p.Thr2598Asn | |
| NM_001127510.2:c.7793C>A | NP_001120982.1:p.Thr2598Asn | |
| NM_001127511.2:c.7739C>A | NP_001120983.2:p.Thr2580Asn | |
| NM_001354895.1:c.7793C>A | NP_001341824.1:p.Thr2598Asn | |
| NM_001354896.1:c.7847C>A | NP_001341825.1:p.Thr2616Asn | |
| NM_001354897.1:c.7823C>A | NP_001341826.1:p.Thr2608Asn | |
| NM_001354898.1:c.7718C>A | NP_001341827.1:p.Thr2573Asn | |
| NM_001354899.1:c.7709C>A | NP_001341828.1:p.Thr2570Asn | |
| NM_001354900.1:c.7670C>A | NP_001341829.1:p.Thr2557Asn | |
| NM_001354901.1:c.7616C>A | NP_001341830.1:p.Thr2539Asn | |
| NM_001354902.1:c.7520C>A | NP_001341831.1:p.Thr2507Asn | |
| NM_001354903.1:c.7490C>A | NP_001341832.1:p.Thr2497Asn | |
| NM_001354904.1:c.7415C>A | NP_001341833.1:p.Thr2472Asn | |
| NM_001354905.1:c.7313C>A | NP_001341834.1:p.Thr2438Asn | |
| NM_001354906.1:c.6944C>A | NP_001341835.1:p.Thr2315Asn | |
| NM_000038.6:c.7793C>A MANE Select | NP_000029.2:p.Thr2598Asn | |
| NM_001127510.3:c.7793C>A | NP_001120982.1:p.Thr2598Asn | |
| NM_001127511.3:c.7739C>A | NP_001120983.2:p.Thr2580Asn | |
| NM_001354895.2:c.7793C>A | NP_001341824.1:p.Thr2598Asn | |
| NM_001354896.2:c.7847C>A | NP_001341825.1:p.Thr2616Asn | |
| NM_001354897.2:c.7823C>A | NP_001341826.1:p.Thr2608Asn | |
| NM_001354898.2:c.7718C>A | NP_001341827.1:p.Thr2573Asn | |
| NM_001354899.2:c.7709C>A | NP_001341828.1:p.Thr2570Asn | |
| NM_001354900.2:c.7670C>A | NP_001341829.1:p.Thr2557Asn | |
| NM_001354901.2:c.7616C>A | NP_001341830.1:p.Thr2539Asn | |
| NM_001354902.2:c.7520C>A | NP_001341831.1:p.Thr2507Asn | |
| NM_001354903.2:c.7490C>A | NP_001341832.1:p.Thr2497Asn | |
| NM_001354904.2:c.7415C>A | NP_001341833.1:p.Thr2472Asn | |
| NM_001354905.2:c.7313C>A | NP_001341834.1:p.Thr2438Asn | |
| NM_001354906.2:c.6944C>A | NP_001341835.1:p.Thr2315Asn |