Linked Data
ClinVar Variation Id:
3116047
ClinVar RCV Id:
RCV004411911
dbSNP Id:
rs1337235778
gnomAD v2:
12-49418391-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024608G>C , CM000674.2:g.49024608G>C | GRCh38 |
| NC_000012.11:g.49418391G>C , CM000674.1:g.49418391G>C | GRCh37 |
| NC_000012.10:g.47704658G>C | NCBI36 |
| NG_027827.1:g.35717C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.694C>G | ||
| ENST00000683543.2:c.16022C>G | ENSP00000506726.1:p.Ser5341Ter | |
| ENST00000683863.1:n.1737C>G | ||
| ENST00000684428.1:c.557C>G | ENSP00000507433.1:p.Ser186Ter | |
| ENST00000684755.1:n.557C>G | ||
| ENST00000685024.1:c.1176C>G | ||
| ENST00000685166.1:c.16031C>G | ENSP00000509386.1:p.Ser5344Ter | |
| ENST00000688411.1:c.499C>G | ENSP00000510146.1:n.499C>G | |
| ENST00000691932.1:c.101C>G | ENSP00000509037.1:p.Ser34Ter | |
| ENST00000692637.1:c.16019C>G | ENSP00000509666.1:p.Ser5340Ter | |
| ENST00000301067.12:c.16022C>G MANE Select | ENSP00000301067.7:p.Ser5341Ter | |
| ENST00000301067.11:c.16022C>G | ENSP00000301067.7:p.Ser5341Ter | |
| ENST00000526209.1:c.17C>G | ENSP00000435714.1:p.Ser6Ter | |
| NM_003482.3:c.16022C>G | NP_003473.3:p.Ser5341Ter | |
| XM_005269162.3:c.16022C>G | XP_005269219.1:p.Ser5341Ter | |
| XM_006719614.2:c.16031C>G | XP_006719677.1:p.Ser5344Ter | |
| XM_006719616.2:c.16019C>G | XP_006719679.1:p.Ser5340Ter | |
| XM_011538770.1:c.16031C>G | XP_011537072.1:p.Ser5344Ter | |
| XM_011538771.1:c.16028C>G | XP_011537073.1:p.Ser5343Ter | |
| XM_011538772.1:c.16022C>G | XP_011537074.1:p.Ser5341Ter | |
| XM_011538773.1:c.16019C>G | XP_011537075.1:p.Ser5340Ter | |
| XM_011538774.1:c.16010C>G | XP_011537076.1:p.Ser5337Ter | |
| XM_011538775.1:c.15965C>G | XP_011537077.1:p.Ser5322Ter | |
| XM_011538776.1:c.15938C>G | XP_011537078.1:p.Ser5313Ter | |
| XM_005269162.4:c.16022C>G | XP_005269219.1:p.Ser5341Ter | |
| XM_006719614.4:c.16031C>G | XP_006719677.1:p.Ser5344Ter | |
| XM_006719616.3:c.16019C>G | XP_006719679.1:p.Ser5340Ter | |
| XM_011538770.2:c.16031C>G | XP_011537072.1:p.Ser5344Ter | |
| XM_011538771.2:c.16028C>G | XP_011537073.1:p.Ser5343Ter | |
| XM_011538772.2:c.16022C>G | XP_011537074.1:p.Ser5341Ter | |
| XM_011538773.2:c.16019C>G | XP_011537075.1:p.Ser5340Ter | |
| XM_011538774.2:c.16010C>G | XP_011537076.1:p.Ser5337Ter | |
| XM_011538776.2:c.15938C>G | XP_011537078.1:p.Ser5313Ter | |
| XR_001748874.1:n.16199C>G | ||
| NM_003482.4:c.16022C>G MANE Select | NP_003473.3:p.Ser5341Ter |