Linked Data
ClinVar Variation Id:
30703
ClinVar RCV Id:
RCV000023681
RCV000169775
RCV000987440
RCV001047050
RCV001356848
RCV002276570
RCV003324499
RCV004532400
dbSNP Id:
rs387906980
ExAC:
4:39233563 T / C
gnomAD v2:
4-39233563-T-C
gnomAD v3:
4-39231943-T-C
gnomAD v4:
4-39231943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39231943T>C , CM000666.2:g.39231943T>C | GRCh38 |
| NC_000004.11:g.39233563T>C , CM000666.1:g.39233563T>C | GRCh37 |
| NC_000004.10:g.38909958T>C | NCBI36 |
| NG_031813.1:g.54540T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2129T>C MANE Select | ENSP00000382717.3:p.Leu710Ser | |
| ENST00000399820.7:c.2129T>C | ENSP00000382717.3:p.Leu710Ser | |
| ENST00000506869.5:c.*1710T>C | ENSP00000424319.1:n.*1710T>C | |
| ENST00000507228.1:c.307T>C | ||
| ENST00000511729.5:n.320T>C | ||
| ENST00000512095.5:n.1127T>C | ||
| ENST00000515631.1:n.283T>C | ||
| NM_025132.3:c.2129T>C | NP_079408.3:p.Leu710Ser | |
| XM_011513724.1:c.2129T>C | XP_011512026.1:p.Leu710Ser | |
| XM_011513725.1:c.2063T>C | XP_011512027.1:p.Leu688Ser | |
| XM_011513726.1:c.1649T>C | XP_011512028.1:p.Leu550Ser | |
| XM_011513727.1:c.1649T>C | XP_011512029.1:p.Leu550Ser | |
| XM_011513728.1:c.1649T>C | XP_011512030.1:p.Leu550Ser | |
| XM_011513729.1:c.2129T>C | XP_011512031.1:p.Leu710Ser | |
| XR_925155.1:n.2193T>C | ||
| NM_001317924.1:c.1649T>C | NP_001304853.1:p.Leu550Ser | |
| XM_011513725.2:c.2063T>C | XP_011512027.1:p.Leu688Ser | |
| XM_011513726.3:c.1649T>C | XP_011512028.1:p.Leu550Ser | |
| XM_017008501.1:c.1649T>C | XP_016863990.1:p.Leu550Ser | |
| XR_001741306.1:n.2193T>C | ||
| XR_001741307.1:n.2193T>C | ||
| XR_001741308.1:n.2193T>C | ||
| XR_001741309.1:n.2193T>C | ||
| XR_001741310.1:n.2193T>C | ||
| XR_001741311.2:n.2042T>C | ||
| XR_001741312.1:n.2193T>C | ||
| NM_025132.4:c.2129T>C MANE Select | NP_079408.3:p.Leu710Ser | |
| NM_001317924.2:c.1649T>C | NP_001304853.1:p.Leu550Ser |