Revel Score:
ENST00000350896
0.582
ENST00000262101 (MANE Select)
0.582
ENST00000445506
0.582
ENST00000355282
0.582
ENST00000522672
0.582
ENST00000381998
0.582
ENST00000536385
0.582
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16155139G>A , CM000670.2:g.16155139G>A | GRCh38 |
| NC_000008.10:g.16012648G>A , CM000670.1:g.16012648G>A | GRCh37 |
| NC_000008.9:g.16057019G>A | NCBI36 |
| NG_012102.1:g.42653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262101.10:c.823C>T MANE Select | ENSP00000262101.5:p.Pro275Ser | |
| ENST00000262101.9:c.823C>T | ENSP00000262101.5:p.Pro275Ser | |
| ENST00000350896.3:c.823C>T | ENSP00000262100.3:p.Pro275Ser | |
| ENST00000355282.6:c.823C>T | ENSP00000347430.2:p.Pro275Ser | |
| ENST00000381998.8:c.823C>T | ENSP00000371428.4:p.Pro275Ser | |
| ENST00000445506.6:c.877C>T | ENSP00000405453.2:p.Pro293Ser | |
| ENST00000519060.6:c.*182C>T | ENSP00000428865.1:n.*182C>T | |
| ENST00000522672.5:c.193C>T | ENSP00000430536.1:p.Pro65Ser | |
| NM_002445.3:c.823C>T | NP_002436.1:p.Pro275Ser | |
| NM_138715.2:c.823C>T | NP_619729.1:p.Pro275Ser | |
| NM_138716.2:c.823C>T | NP_619730.1:p.Pro275Ser | |
| NM_001363744.1:c.877C>T | NP_001350673.1:p.Pro293Ser | |
| XM_024447161.1:c.877C>T | XP_024302929.1:p.Pro293Ser | |
| NM_138715.3:c.823C>T MANE Select | NP_619729.1:p.Pro275Ser | |
| NM_002445.4:c.823C>T | NP_002436.1:p.Pro275Ser | |
| NM_138716.3:c.823C>T | NP_619730.1:p.Pro275Ser |