Linked Data
ClinVar Variation Id:
135728
dbSNP Id:
rs587780610
gnomAD v2:
5-112179815-T-G
gnomAD v4:
5-112844118-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112844118T>G , CM000667.2:g.112844118T>G | GRCh38 |
| NC_000005.9:g.112179815T>G , CM000667.1:g.112179815T>G | GRCh37 |
| NC_000005.8:g.112207714T>G | NCBI36 |
| NG_008481.4:g.156598T>G , LRG_130:g.156598T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8578T>G | ENSP00000473355.2:p.Ser2860Ala | |
| ENST00000505350.2:c.*8530T>G | ENSP00000481752.1:n.*8530T>G | |
| ENST00000507379.6:c.8470T>G | ENSP00000423224.2:p.Ser2824Ala | |
| ENST00000509732.6:c.8524T>G | ENSP00000426541.2:p.Ser2842Ala | |
| ENST00000512211.7:c.8524T>G | ENSP00000423828.3:p.Ser2842Ala | |
| ENST00000257430.9:c.8524T>G MANE Select | ENSP00000257430.4:p.Ser2842Ala | |
| ENST00000257430.8:c.8524T>G | ENSP00000257430.4:p.Ser2842Ala | |
| ENST00000508376.6:c.8524T>G | ENSP00000427089.2:p.Ser2842Ala | |
| ENST00000520401.1:c.231-12531T>G | ||
| NM_000038.5:c.8524T>G | NP_000029.2:p.Ser2842Ala | |
| NM_001127510.2:c.8524T>G | NP_001120982.1:p.Ser2842Ala | |
| NM_001127511.2:c.8470T>G | NP_001120983.2:p.Ser2824Ala | |
| NM_001354895.1:c.8524T>G | NP_001341824.1:p.Ser2842Ala | |
| NM_001354896.1:c.8578T>G | NP_001341825.1:p.Ser2860Ala | |
| NM_001354897.1:c.8554T>G | NP_001341826.1:p.Ser2852Ala | |
| NM_001354898.1:c.8449T>G | NP_001341827.1:p.Ser2817Ala | |
| NM_001354899.1:c.8440T>G | NP_001341828.1:p.Ser2814Ala | |
| NM_001354900.1:c.8401T>G | NP_001341829.1:p.Ser2801Ala | |
| NM_001354901.1:c.8347T>G | NP_001341830.1:p.Ser2783Ala | |
| NM_001354902.1:c.8251T>G | NP_001341831.1:p.Ser2751Ala | |
| NM_001354903.1:c.8221T>G | NP_001341832.1:p.Ser2741Ala | |
| NM_001354904.1:c.8146T>G | NP_001341833.1:p.Ser2716Ala | |
| NM_001354905.1:c.8044T>G | NP_001341834.1:p.Ser2682Ala | |
| NM_001354906.1:c.7675T>G | NP_001341835.1:p.Ser2559Ala | |
| NM_000038.6:c.8524T>G MANE Select | NP_000029.2:p.Ser2842Ala | |
| NM_001127510.3:c.8524T>G | NP_001120982.1:p.Ser2842Ala | |
| NM_001127511.3:c.8470T>G | NP_001120983.2:p.Ser2824Ala | |
| NM_001354895.2:c.8524T>G | NP_001341824.1:p.Ser2842Ala | |
| NM_001354896.2:c.8578T>G | NP_001341825.1:p.Ser2860Ala | |
| NM_001354897.2:c.8554T>G | NP_001341826.1:p.Ser2852Ala | |
| NM_001354898.2:c.8449T>G | NP_001341827.1:p.Ser2817Ala | |
| NM_001354899.2:c.8440T>G | NP_001341828.1:p.Ser2814Ala | |
| NM_001354900.2:c.8401T>G | NP_001341829.1:p.Ser2801Ala | |
| NM_001354901.2:c.8347T>G | NP_001341830.1:p.Ser2783Ala | |
| NM_001354902.2:c.8251T>G | NP_001341831.1:p.Ser2751Ala | |
| NM_001354903.2:c.8221T>G | NP_001341832.1:p.Ser2741Ala | |
| NM_001354904.2:c.8146T>G | NP_001341833.1:p.Ser2716Ala | |
| NM_001354905.2:c.8044T>G | NP_001341834.1:p.Ser2682Ala | |
| NM_001354906.2:c.7675T>G | NP_001341835.1:p.Ser2559Ala |