Revel Score:
ENST00000360473
0.095
ENST00000312942 (MANE Select)
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017399 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00017841 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50015701C>G , CM000675.2:g.50015701C>G | GRCh38 |
| NC_000013.10:g.50589837C>G , CM000675.1:g.50589837C>G | GRCh37 |
| NC_000013.9:g.49487838C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312942.2:c.208C>G (KCNRG) MANE Select | ENSP00000324191.1:p.Leu70Val | |
| ENST00000378182.4:c.*2537C>G (TRIM13) MANE Select | ENSP00000367424.3:n.*2537C>G | |
| ENST00000312942.1:c.208C>G (KCNRG) | ENSP00000324191.1:p.Leu70Val | |
| ENST00000360473.8:c.208C>G (KCNRG) | ENSP00000353661.4:p.Leu70Val | |
| ENST00000378182.3:c.*2537C>G (TRIM13) | ENSP00000367424.3:n.*2537C>G | |
| ENST00000474805.5:n.136-4513C>G (TRIM13) | ||
| ENST00000478111.5:n.211-4513C>G (TRIM13) | ||
| NM_001007278.2:c.*2537C>G (TRIM13) | NP_001007279.1:n.*2537C>G | |
| NM_005798.4:c.*2537C>G (TRIM13) | NP_005789.2:n.*2537C>G | |
| NM_052811.3:c.*2537C>G (TRIM13) | NP_434698.1:n.*2537C>G | |
| NM_173605.1:c.208C>G (KCNRG) | NP_775876.1:p.Leu70Val | |
| NM_199464.2:c.208C>G (KCNRG) | NP_955751.1:p.Leu70Val | |
| NM_213590.2:c.*2537C>G (TRIM13) | NP_998755.1:n.*2537C>G | |
| NR_002612.1:n.1014+11506G>C (DLEU2) | ||
| NR_152566.1:n.1314+11506G>C (DLEU2) | ||
| NM_173605.2:c.208C>G (KCNRG) MANE Select | NP_775876.1:p.Leu70Val | |
| NM_213590.3:c.*2537C>G (TRIM13) MANE Select | NP_998755.1:n.*2537C>G | |
| NM_001007278.3:c.*2537C>G (TRIM13) | NP_001007279.1:n.*2537C>G | |
| NM_005798.5:c.*2537C>G (TRIM13) | NP_005789.2:n.*2537C>G | |
| NM_052811.4:c.*2537C>G (TRIM13) | NP_434698.1:n.*2537C>G | |
| NM_199464.3:c.208C>G (KCNRG) | NP_955751.1:p.Leu70Val |