Revel Score:
ENST00000272286 (MANE Select)
0.256
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00076739 (NFE)
Genomes Max Group AF
0.00049451 (NFE)
Exomes Max Group AF
0.0007757 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43872255C>T , CM000664.2:g.43872255C>T | GRCh38 |
| NC_000002.11:g.44099394C>T , CM000664.1:g.44099394C>T | GRCh37 |
| NC_000002.10:g.43952898C>T | NCBI36 |
| NG_008884.1:g.38292C>T | |
| NG_008884.2:g.45314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1160C>T MANE Select | ENSP00000272286.2:p.Pro387Leu | |
| ENST00000644611.1:c.1172C>T | ENSP00000495423.1:p.Pro391Leu | |
| ENST00000272286.2:c.1160C>T | ENSP00000272286.2:p.Pro387Leu | |
| NM_022437.2:c.1160C>T | NP_071882.1:p.Pro387Leu | |
| XM_005264483.2:c.1157C>T | XP_005264540.1:p.Pro386Leu | |
| XM_011533029.1:c.1172C>T | XP_011531331.1:p.Pro391Leu | |
| XM_011533030.1:c.1169C>T | XP_011531332.1:p.Pro390Leu | |
| XM_011533031.1:c.944C>T | XP_011531333.1:p.Pro315Leu | |
| XR_939707.1:n.1662C>T | ||
| NM_001357321.1:c.1157C>T | NP_001344250.1:p.Pro386Leu | |
| XM_011533029.2:c.1172C>T | XP_011531331.1:p.Pro391Leu | |
| XM_011533030.2:c.1169C>T | XP_011531332.1:p.Pro390Leu | |
| XR_001738891.1:n.1676C>T | ||
| XR_939707.2:n.1676C>T | ||
| NM_022437.3:c.1160C>T MANE Select | NP_071882.1:p.Pro387Leu | |
| NM_001357321.2:c.1157C>T | NP_001344250.1:p.Pro386Leu |