Linked Data
ClinVar Variation Id:
1003325
ClinVar RCV Id:
RCV003538647
dbSNP Id:
rs1766609894
gnomAD v4:
5-112843548-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843548T>G , CM000667.2:g.112843548T>G | GRCh38 |
| NC_000005.9:g.112179245T>G , CM000667.1:g.112179245T>G | GRCh37 |
| NC_000005.8:g.112207144T>G | NCBI36 |
| NG_008481.4:g.156028T>G , LRG_130:g.156028T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8008T>G | ENSP00000473355.2:p.Ser2670Ala | |
| ENST00000505350.2:c.*7960T>G | ENSP00000481752.1:n.*7960T>G | |
| ENST00000507379.6:c.7900T>G | ENSP00000423224.2:p.Ser2634Ala | |
| ENST00000509732.6:c.7954T>G | ENSP00000426541.2:p.Ser2652Ala | |
| ENST00000512211.7:c.7954T>G | ENSP00000423828.3:p.Ser2652Ala | |
| ENST00000257430.9:c.7954T>G MANE Select | ENSP00000257430.4:p.Ser2652Ala | |
| ENST00000257430.8:c.7954T>G | ENSP00000257430.4:p.Ser2652Ala | |
| ENST00000508376.6:c.7954T>G | ENSP00000427089.2:p.Ser2652Ala | |
| ENST00000520401.1:c.231-13101T>G | ||
| NM_000038.5:c.7954T>G | NP_000029.2:p.Ser2652Ala | |
| NM_001127510.2:c.7954T>G | NP_001120982.1:p.Ser2652Ala | |
| NM_001127511.2:c.7900T>G | NP_001120983.2:p.Ser2634Ala | |
| NM_001354895.1:c.7954T>G | NP_001341824.1:p.Ser2652Ala | |
| NM_001354896.1:c.8008T>G | NP_001341825.1:p.Ser2670Ala | |
| NM_001354897.1:c.7984T>G | NP_001341826.1:p.Ser2662Ala | |
| NM_001354898.1:c.7879T>G | NP_001341827.1:p.Ser2627Ala | |
| NM_001354899.1:c.7870T>G | NP_001341828.1:p.Ser2624Ala | |
| NM_001354900.1:c.7831T>G | NP_001341829.1:p.Ser2611Ala | |
| NM_001354901.1:c.7777T>G | NP_001341830.1:p.Ser2593Ala | |
| NM_001354902.1:c.7681T>G | NP_001341831.1:p.Ser2561Ala | |
| NM_001354903.1:c.7651T>G | NP_001341832.1:p.Ser2551Ala | |
| NM_001354904.1:c.7576T>G | NP_001341833.1:p.Ser2526Ala | |
| NM_001354905.1:c.7474T>G | NP_001341834.1:p.Ser2492Ala | |
| NM_001354906.1:c.7105T>G | NP_001341835.1:p.Ser2369Ala | |
| NM_000038.6:c.7954T>G MANE Select | NP_000029.2:p.Ser2652Ala | |
| NM_001127510.3:c.7954T>G | NP_001120982.1:p.Ser2652Ala | |
| NM_001127511.3:c.7900T>G | NP_001120983.2:p.Ser2634Ala | |
| NM_001354895.2:c.7954T>G | NP_001341824.1:p.Ser2652Ala | |
| NM_001354896.2:c.8008T>G | NP_001341825.1:p.Ser2670Ala | |
| NM_001354897.2:c.7984T>G | NP_001341826.1:p.Ser2662Ala | |
| NM_001354898.2:c.7879T>G | NP_001341827.1:p.Ser2627Ala | |
| NM_001354899.2:c.7870T>G | NP_001341828.1:p.Ser2624Ala | |
| NM_001354900.2:c.7831T>G | NP_001341829.1:p.Ser2611Ala | |
| NM_001354901.2:c.7777T>G | NP_001341830.1:p.Ser2593Ala | |
| NM_001354902.2:c.7681T>G | NP_001341831.1:p.Ser2561Ala | |
| NM_001354903.2:c.7651T>G | NP_001341832.1:p.Ser2551Ala | |
| NM_001354904.2:c.7576T>G | NP_001341833.1:p.Ser2526Ala | |
| NM_001354905.2:c.7474T>G | NP_001341834.1:p.Ser2492Ala | |
| NM_001354906.2:c.7105T>G | NP_001341835.1:p.Ser2369Ala |