Revel Score:
ENST00000355773 (MANE Select)
0.799
ENST00000393019
0.799
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641716A>G , CM000668.2:g.73641716A>G | GRCh38 |
| NC_000006.11:g.74351439A>G , CM000668.1:g.74351439A>G | GRCh37 |
| NC_000006.10:g.74408160A>G | NCBI36 |
| NG_008272.1:g.17299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.500T>C MANE Select | ENSP00000348019.5:p.Leu167Pro | |
| ENST00000355773.5:c.500T>C | ENSP00000348019.5:p.Leu167Pro | |
| ENST00000481996.1:n.266T>C | ||
| NM_012434.4:c.500T>C | NP_036566.1:p.Leu167Pro | |
| XM_005248710.2:c.449T>C | XP_005248767.1:p.Leu150Pro | |
| XM_005248711.1:c.302T>C | XP_005248768.1:p.Leu101Pro | |
| XM_011535750.1:c.500T>C | XP_011534052.1:p.Leu167Pro | |
| XM_011535751.1:c.500T>C | XP_011534053.1:p.Leu167Pro | |
| NM_012434.5:c.500T>C MANE Select | NP_036566.1:p.Leu167Pro | |
| NM_001382629.1:c.269T>C | NP_001369558.1:p.Leu90Pro | |
| NM_001382630.1:c.500T>C | NP_001369559.1:p.Leu167Pro | |
| NM_001382631.1:c.521T>C | NP_001369560.1:p.Leu174Pro | |
| NM_001382632.1:c.500T>C | NP_001369561.1:p.Leu167Pro | |
| NM_001382633.1:c.500T>C | NP_001369562.1:p.Leu167Pro | |
| NM_001382634.1:c.500T>C | NP_001369563.1:p.Leu167Pro | |
| NM_001382635.1:c.500T>C | NP_001369564.1:p.Leu167Pro | |
| NM_001382636.1:c.269T>C | NP_001369565.1:p.Leu90Pro |