Revel Score:
ENST00000372468
0.596
ENST00000372470 (MANE Select)
0.596
ENST00000413998
0.596
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43340096C>T , CM000663.2:g.43340096C>T | GRCh38 |
| NC_000001.10:g.43805767C>T , CM000663.1:g.43805767C>T | GRCh37 |
| NC_000001.9:g.43578354C>T | NCBI36 |
| NG_007525.1:g.7293C>T , LRG_510:g.7293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.823C>T MANE Select | ENSP00000361548.3:p.Pro275Ser | |
| ENST00000413998.7:c.802C>T | ENSP00000414004.3:p.Pro268Ser | |
| ENST00000638732.1:n.823C>T | ||
| ENST00000372470.7:c.823C>T | ENSP00000361548.3:p.Pro275Ser | |
| ENST00000413998.6:c.823C>T | ENSP00000414004.2:p.Pro275Ser | |
| ENST00000612993.1:c.823C>T | ENSP00000480273.1:p.Pro275Ser | |
| NM_005373.2:c.823C>T , LRG_510t1:c.823C>T | NP_005364.1:p.Pro275Ser | |
| XM_011541478.1:c.802C>T | XP_011539780.1:p.Pro268Ser | |
| XM_017001320.1:c.994C>T | XP_016856809.1:p.Pro332Ser | |
| NM_005373.3:c.823C>T MANE Select | NP_005364.1:p.Pro275Ser |