Linked Data
ClinVar Variation Id:
424472
ClinVar RCV Id:
RCV000479045
dbSNP Id:
rs1064796986
gnomAD v4:
4-39205167-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205167T>C , CM000666.2:g.39205167T>C | GRCh38 |
| NC_000004.11:g.39206787T>C , CM000666.1:g.39206787T>C | GRCh37 |
| NC_000004.10:g.38883182T>C | NCBI36 |
| NG_031813.1:g.27764T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399820.8:c.617T>C MANE Select | ENSP00000382717.3:p.Leu206Pro | |
| ENST00000399820.7:c.617T>C | ENSP00000382717.3:p.Leu206Pro | |
| ENST00000503697.5:c.*85T>C | ENSP00000423706.1:n.*85T>C | |
| ENST00000505055.5:c.*198T>C | ENSP00000425949.1:n.*198T>C | |
| ENST00000506503.1:c.617T>C | ENSP00000423491.1:p.Leu206Pro | |
| ENST00000506869.5:c.*198T>C | ENSP00000424319.1:n.*198T>C | |
| ENST00000511729.5:n.40+22604T>C | ||
| ENST00000512448.1:n.211T>C | ||
| NM_025132.3:c.617T>C | NP_079408.3:p.Leu206Pro | |
| XM_011513724.1:c.617T>C | XP_011512026.1:p.Leu206Pro | |
| XM_011513725.1:c.551T>C | XP_011512027.1:p.Leu184Pro | |
| XM_011513726.1:c.137T>C | XP_011512028.1:p.Leu46Pro | |
| XM_011513727.1:c.137T>C | XP_011512029.1:p.Leu46Pro | |
| XM_011513728.1:c.137T>C | XP_011512030.1:p.Leu46Pro | |
| XM_011513729.1:c.617T>C | XP_011512031.1:p.Leu206Pro | |
| XR_925155.1:n.681T>C | ||
| NM_001317924.1:c.137T>C | NP_001304853.1:p.Leu46Pro | |
| XM_011513725.2:c.551T>C | XP_011512027.1:p.Leu184Pro | |
| XM_011513726.3:c.137T>C | XP_011512028.1:p.Leu46Pro | |
| XM_017008501.1:c.137T>C | XP_016863990.1:p.Leu46Pro | |
| XR_001741306.1:n.681T>C | ||
| XR_001741307.1:n.681T>C | ||
| XR_001741308.1:n.681T>C | ||
| XR_001741309.1:n.681T>C | ||
| XR_001741310.1:n.681T>C | ||
| XR_001741311.2:n.530T>C | ||
| XR_001741312.1:n.681T>C | ||
| NM_025132.4:c.617T>C MANE Select | NP_079408.3:p.Leu206Pro | |
| NM_001317924.2:c.137T>C | NP_001304853.1:p.Leu46Pro |