Linked Data
ClinVar Variation Id:
446224
ClinVar RCV Id:
RCV000515489
dbSNP Id:
rs779659766
PubMed:
PMID:29069077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152177903G>C , CM000669.2:g.152177903G>C | GRCh38 |
| NC_000007.13:g.151874988G>C , CM000669.1:g.151874988G>C | GRCh37 |
| NC_000007.12:g.151505921G>C | NCBI36 |
| NG_033948.1:g.263103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682176.1:c.4269C>G | ||
| ENST00000682283.1:c.7550C>G | ENSP00000507485.1:p.Ser2517Ter | |
| ENST00000683159.1:c.2860C>G | ||
| ENST00000683200.1:c.4898C>G | ENSP00000508052.1:p.Ser1633Ter | |
| ENST00000683397.1:c.2285C>G | ENSP00000507053.1:p.Ser762Ter | |
| ENST00000683625.1:c.2285C>G | ENSP00000507769.1:p.Ser762Ter | |
| ENST00000683670.1:c.2285C>G | ENSP00000507634.1:p.Ser762Ter | |
| ENST00000684261.1:c.2285C>G | ENSP00000508097.1:p.Ser762Ter | |
| ENST00000684307.1:c.2285C>G | ENSP00000507202.1:p.Ser762Ter | |
| ENST00000684398.1:c.2285C>G | ENSP00000507254.1:p.Ser762Ter | |
| ENST00000262189.11:c.7550C>G MANE Select | ENSP00000262189.6:p.Ser2517Ter | |
| ENST00000360104.8:c.3172C>G | ||
| ENST00000558665.2:c.839C>G | ENSP00000454058.2:p.Ser280Ter | |
| ENST00000679393.1:n.1041C>G | ||
| ENST00000679560.1:c.2285C>G | ENSP00000505094.1:p.Ser762Ter | |
| ENST00000679645.1:c.*3643C>G | ENSP00000505745.1:n.*3643C>G | |
| ENST00000679882.1:c.7325C>G | ENSP00000506154.1:p.Ser2442Ter | |
| ENST00000680877.1:c.2285C>G | ENSP00000505724.1:p.Ser762Ter | |
| ENST00000680969.1:c.4946C>G | ENSP00000505951.1:p.Ser1649Ter | |
| ENST00000681033.1:c.6248C>G | ENSP00000505058.1:p.Ser2083Ter | |
| ENST00000262189.10:c.7550C>G | ENSP00000262189.6:p.Ser2517Ter | |
| ENST00000355193.6:c.7550C>G | ENSP00000347325.3:p.Ser2517Ter | |
| ENST00000360104.7:c.66C>G | ||
| ENST00000473186.5:n.5261C>G | ||
| ENST00000558084.5:c.*5070C>G | ENSP00000453752.1:n.*5070C>G | |
| ENST00000558665.1:c.464C>G | ENSP00000454058.1:p.Ser155Ter | |
| NM_170606.2:c.7550C>G | NP_733751.2:p.Ser2517Ter | |
| XM_005250025.3:c.7601C>G | XP_005250082.1:p.Ser2534Ter | |
| XM_005250026.2:c.7598C>G | XP_005250083.1:p.Ser2533Ter | |
| XM_005250027.3:c.7601C>G | XP_005250084.1:p.Ser2534Ter | |
| XM_005250028.3:c.7601C>G | XP_005250085.1:p.Ser2534Ter | |
| XM_005250031.3:c.7601C>G | XP_005250088.1:p.Ser2534Ter | |
| XM_006716077.2:c.7601C>G | XP_006716140.1:p.Ser2534Ter | |
| XM_006716078.2:c.7601C>G | XP_006716141.1:p.Ser2534Ter | |
| XM_006716079.2:c.7601C>G | XP_006716142.1:p.Ser2534Ter | |
| XM_011516450.1:c.7553C>G | XP_011514752.1:p.Ser2518Ter | |
| XM_011516451.1:c.7481C>G | XP_011514753.1:p.Ser2494Ter | |
| XM_011516452.1:c.7448C>G | XP_011514754.1:p.Ser2483Ter | |
| XM_011516453.1:c.7601C>G | XP_011514755.1:p.Ser2534Ter | |
| XM_011516454.1:c.6686C>G | XP_011514756.1:p.Ser2229Ter | |
| XM_011516455.1:c.5147C>G | XP_011514757.1:p.Ser1716Ter | |
| XM_011516456.1:c.7553C>G | XP_011514758.1:p.Ser2518Ter | |
| XR_428183.2:n.7809C>G | ||
| XM_005250025.4:c.7601C>G | XP_005250082.1:p.Ser2534Ter | |
| XM_005250026.3:c.7598C>G | XP_005250083.1:p.Ser2533Ter | |
| XM_005250027.4:c.7601C>G | XP_005250084.1:p.Ser2534Ter | |
| XM_005250028.4:c.7601C>G | XP_005250085.1:p.Ser2534Ter | |
| XM_005250031.4:c.7601C>G | XP_005250088.1:p.Ser2534Ter | |
| XM_006716077.3:c.7601C>G | XP_006716140.1:p.Ser2534Ter | |
| XM_006716078.3:c.7601C>G | XP_006716141.1:p.Ser2534Ter | |
| XM_006716079.3:c.7601C>G | XP_006716142.1:p.Ser2534Ter | |
| XM_011516450.2:c.7553C>G | XP_011514752.1:p.Ser2518Ter | |
| XM_011516451.2:c.7481C>G | XP_011514753.1:p.Ser2494Ter | |
| XM_011516452.2:c.7448C>G | XP_011514754.1:p.Ser2483Ter | |
| XM_011516453.2:c.7601C>G | XP_011514755.1:p.Ser2534Ter | |
| XM_011516454.2:c.6686C>G | XP_011514756.1:p.Ser2229Ter | |
| XM_011516456.2:c.7553C>G | XP_011514758.1:p.Ser2518Ter | |
| XM_017012480.1:c.7601C>G | XP_016867969.1:p.Ser2534Ter | |
| XM_017012481.1:c.7598C>G | XP_016867970.1:p.Ser2533Ter | |
| XM_017012482.1:c.7601C>G | XP_016867971.1:p.Ser2534Ter | |
| XM_017012483.1:c.7601C>G | XP_016867972.1:p.Ser2534Ter | |
| XM_017012484.1:c.7568C>G | XP_016867973.1:p.Ser2523Ter | |
| XM_017012485.1:c.7550C>G | XP_016867974.1:p.Ser2517Ter | |
| XM_017012486.1:c.7601C>G | XP_016867975.1:p.Ser2534Ter | |
| XM_017012487.1:c.7454C>G | XP_016867976.1:p.Ser2485Ter | |
| XM_017012488.1:c.7418C>G | XP_016867977.1:p.Ser2473Ter | |
| XM_017012489.1:c.4271C>G | XP_016867978.1:p.Ser1424Ter | |
| XM_017012490.2:c.3875C>G | XP_016867979.1:p.Ser1292Ter | |
| XM_024446852.1:c.7598C>G | XP_024302620.1:p.Ser2533Ter | |
| XM_024446853.1:c.7601C>G | XP_024302621.1:p.Ser2534Ter | |
| XR_428183.3:n.7833C>G | ||
| NM_170606.3:c.7550C>G MANE Select | NP_733751.2:p.Ser2517Ter |