Linked Data
dbSNP Id:
rs753426600
ExAC:
4:39207314 T / C
gnomAD v2:
4-39207314-T-C
gnomAD v4:
4-39205694-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205694T>C , CM000666.2:g.39205694T>C | GRCh38 |
| NC_000004.11:g.39207314T>C , CM000666.1:g.39207314T>C | GRCh37 |
| NC_000004.10:g.38883709T>C | NCBI36 |
| NG_031813.1:g.28291T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.848T>C MANE Select | ENSP00000382717.3:p.Val283Ala | |
| ENST00000399820.7:c.848T>C | ENSP00000382717.3:p.Val283Ala | |
| ENST00000503697.5:c.*316T>C | ENSP00000423706.1:n.*316T>C | |
| ENST00000506503.1:c.848T>C | ENSP00000423491.1:p.Val283Ala | |
| ENST00000506869.5:c.*429T>C | ENSP00000424319.1:n.*429T>C | |
| ENST00000511729.5:n.41-22864T>C | ||
| ENST00000512448.1:n.442T>C | ||
| NM_025132.3:c.848T>C | NP_079408.3:p.Val283Ala | |
| XM_011513724.1:c.848T>C | XP_011512026.1:p.Val283Ala | |
| XM_011513725.1:c.782T>C | XP_011512027.1:p.Val261Ala | |
| XM_011513726.1:c.368T>C | XP_011512028.1:p.Val123Ala | |
| XM_011513727.1:c.368T>C | XP_011512029.1:p.Val123Ala | |
| XM_011513728.1:c.368T>C | XP_011512030.1:p.Val123Ala | |
| XM_011513729.1:c.848T>C | XP_011512031.1:p.Val283Ala | |
| XR_925155.1:n.912T>C | ||
| NM_001317924.1:c.368T>C | NP_001304853.1:p.Val123Ala | |
| XM_011513725.2:c.782T>C | XP_011512027.1:p.Val261Ala | |
| XM_011513726.3:c.368T>C | XP_011512028.1:p.Val123Ala | |
| XM_017008501.1:c.368T>C | XP_016863990.1:p.Val123Ala | |
| XR_001741306.1:n.912T>C | ||
| XR_001741307.1:n.912T>C | ||
| XR_001741308.1:n.912T>C | ||
| XR_001741309.1:n.912T>C | ||
| XR_001741310.1:n.912T>C | ||
| XR_001741311.2:n.761T>C | ||
| XR_001741312.1:n.912T>C | ||
| NM_025132.4:c.848T>C MANE Select | NP_079408.3:p.Val283Ala | |
| NM_001317924.2:c.368T>C | NP_001304853.1:p.Val123Ala |