Linked Data
ClinVar Variation Id:
958932
ClinVar RCV Id:
RCV001232193
dbSNP Id:
rs369657594
ExAC:
4:39207308 T / C
gnomAD v2:
4-39207308-T-C
gnomAD v3:
4-39205688-T-C
gnomAD v4:
4-39205688-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205688T>C , CM000666.2:g.39205688T>C | GRCh38 |
| NC_000004.11:g.39207308T>C , CM000666.1:g.39207308T>C | GRCh37 |
| NC_000004.10:g.38883703T>C | NCBI36 |
| NG_031813.1:g.28285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.842T>C MANE Select | ENSP00000382717.3:p.Ile281Thr | |
| ENST00000399820.7:c.842T>C | ENSP00000382717.3:p.Ile281Thr | |
| ENST00000503697.5:c.*310T>C | ENSP00000423706.1:n.*310T>C | |
| ENST00000506503.1:c.842T>C | ENSP00000423491.1:p.Ile281Thr | |
| ENST00000506869.5:c.*423T>C | ENSP00000424319.1:n.*423T>C | |
| ENST00000511729.5:n.41-22870T>C | ||
| ENST00000512448.1:n.436T>C | ||
| NM_025132.3:c.842T>C | NP_079408.3:p.Ile281Thr | |
| XM_011513724.1:c.842T>C | XP_011512026.1:p.Ile281Thr | |
| XM_011513725.1:c.776T>C | XP_011512027.1:p.Ile259Thr | |
| XM_011513726.1:c.362T>C | XP_011512028.1:p.Ile121Thr | |
| XM_011513727.1:c.362T>C | XP_011512029.1:p.Ile121Thr | |
| XM_011513728.1:c.362T>C | XP_011512030.1:p.Ile121Thr | |
| XM_011513729.1:c.842T>C | XP_011512031.1:p.Ile281Thr | |
| XR_925155.1:n.906T>C | ||
| NM_001317924.1:c.362T>C | NP_001304853.1:p.Ile121Thr | |
| XM_011513725.2:c.776T>C | XP_011512027.1:p.Ile259Thr | |
| XM_011513726.3:c.362T>C | XP_011512028.1:p.Ile121Thr | |
| XM_017008501.1:c.362T>C | XP_016863990.1:p.Ile121Thr | |
| XR_001741306.1:n.906T>C | ||
| XR_001741307.1:n.906T>C | ||
| XR_001741308.1:n.906T>C | ||
| XR_001741309.1:n.906T>C | ||
| XR_001741310.1:n.906T>C | ||
| XR_001741311.2:n.755T>C | ||
| XR_001741312.1:n.906T>C | ||
| NM_025132.4:c.842T>C MANE Select | NP_079408.3:p.Ile281Thr | |
| NM_001317924.2:c.362T>C | NP_001304853.1:p.Ile121Thr |