Revel Score:
ENST00000513567
0.250
ENST00000295454 (MANE Select)
0.250
ENST00000538619
0.250
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47161315C>T , CM000666.2:g.47161315C>T | GRCh38 |
| NC_000004.11:g.47163332C>T , CM000666.1:g.47163332C>T | GRCh37 |
| NC_000004.10:g.46858089C>T | NCBI36 |
| NG_051831.1:g.135038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.307C>T MANE Select | ENSP00000295454.3:p.Pro103Ser | |
| ENST00000295454.7:c.307C>T | ENSP00000295454.3:p.Pro103Ser | |
| ENST00000510909.1:c.239C>T | ENSP00000426766.1:p.Pro80Leu | |
| ENST00000513567.5:c.208C>T | ENSP00000426753.1:p.Pro70Ser | |
| NM_000812.3:c.307C>T | NP_000803.2:p.Pro103Ser | |
| XM_011513678.1:c.286C>T | XP_011511980.1:p.Pro96Ser | |
| XM_017007986.2:c.307C>T | XP_016863475.1:p.Pro103Ser | |
| XM_024453976.1:c.208C>T | XP_024309744.1:p.Pro70Ser | |
| XM_024453977.1:c.208C>T | XP_024309745.1:p.Pro70Ser | |
| XM_024453978.1:c.208C>T | XP_024309746.1:p.Pro70Ser | |
| NM_000812.4:c.307C>T MANE Select | NP_000803.2:p.Pro103Ser |