Linked Data
ClinVar Variation Id:
958591
dbSNP Id:
rs532244792
ExAC:
5:112178366 T / G
gnomAD v2:
5-112178366-T-G
gnomAD v3:
5-112842669-T-G
gnomAD v4:
5-112842669-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842669T>G , CM000667.2:g.112842669T>G | GRCh38 |
| NC_000005.9:g.112178366T>G , CM000667.1:g.112178366T>G | GRCh37 |
| NC_000005.8:g.112206265T>G | NCBI36 |
| NG_008481.4:g.155149T>G , LRG_130:g.155149T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7129T>G | ENSP00000473355.2:p.Ser2377Ala | |
| ENST00000505350.2:c.*7081T>G | ENSP00000481752.1:n.*7081T>G | |
| ENST00000507379.6:c.7021T>G | ENSP00000423224.2:p.Ser2341Ala | |
| ENST00000509732.6:c.7075T>G | ENSP00000426541.2:p.Ser2359Ala | |
| ENST00000512211.7:c.7075T>G | ENSP00000423828.3:p.Ser2359Ala | |
| ENST00000257430.9:c.7075T>G MANE Select | ENSP00000257430.4:p.Ser2359Ala | |
| ENST00000257430.8:c.7075T>G | ENSP00000257430.4:p.Ser2359Ala | |
| ENST00000508376.6:c.7075T>G | ENSP00000427089.2:p.Ser2359Ala | |
| ENST00000508624.5:c.*6397T>G | ENSP00000424265.1:n.*6397T>G | |
| ENST00000520401.1:c.230+13697T>G | ||
| NM_000038.5:c.7075T>G | NP_000029.2:p.Ser2359Ala | |
| NM_001127510.2:c.7075T>G | NP_001120982.1:p.Ser2359Ala | |
| NM_001127511.2:c.7021T>G | NP_001120983.2:p.Ser2341Ala | |
| NM_001354895.1:c.7075T>G | NP_001341824.1:p.Ser2359Ala | |
| NM_001354896.1:c.7129T>G | NP_001341825.1:p.Ser2377Ala | |
| NM_001354897.1:c.7105T>G | NP_001341826.1:p.Ser2369Ala | |
| NM_001354898.1:c.7000T>G | NP_001341827.1:p.Ser2334Ala | |
| NM_001354899.1:c.6991T>G | NP_001341828.1:p.Ser2331Ala | |
| NM_001354900.1:c.6952T>G | NP_001341829.1:p.Ser2318Ala | |
| NM_001354901.1:c.6898T>G | NP_001341830.1:p.Ser2300Ala | |
| NM_001354902.1:c.6802T>G | NP_001341831.1:p.Ser2268Ala | |
| NM_001354903.1:c.6772T>G | NP_001341832.1:p.Ser2258Ala | |
| NM_001354904.1:c.6697T>G | NP_001341833.1:p.Ser2233Ala | |
| NM_001354905.1:c.6595T>G | NP_001341834.1:p.Ser2199Ala | |
| NM_001354906.1:c.6226T>G | NP_001341835.1:p.Ser2076Ala | |
| NM_000038.6:c.7075T>G MANE Select | NP_000029.2:p.Ser2359Ala | |
| NM_001127510.3:c.7075T>G | NP_001120982.1:p.Ser2359Ala | |
| NM_001127511.3:c.7021T>G | NP_001120983.2:p.Ser2341Ala | |
| NM_001354895.2:c.7075T>G | NP_001341824.1:p.Ser2359Ala | |
| NM_001354896.2:c.7129T>G | NP_001341825.1:p.Ser2377Ala | |
| NM_001354897.2:c.7105T>G | NP_001341826.1:p.Ser2369Ala | |
| NM_001354898.2:c.7000T>G | NP_001341827.1:p.Ser2334Ala | |
| NM_001354899.2:c.6991T>G | NP_001341828.1:p.Ser2331Ala | |
| NM_001354900.2:c.6952T>G | NP_001341829.1:p.Ser2318Ala | |
| NM_001354901.2:c.6898T>G | NP_001341830.1:p.Ser2300Ala | |
| NM_001354902.2:c.6802T>G | NP_001341831.1:p.Ser2268Ala | |
| NM_001354903.2:c.6772T>G | NP_001341832.1:p.Ser2258Ala | |
| NM_001354904.2:c.6697T>G | NP_001341833.1:p.Ser2233Ala | |
| NM_001354905.2:c.6595T>G | NP_001341834.1:p.Ser2199Ala | |
| NM_001354906.2:c.6226T>G | NP_001341835.1:p.Ser2076Ala |