Revel Score:
ENST00000554357
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043027 (MID)
Exomes Max Group AF
0.00045442 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91969784G>A , CM000676.2:g.91969784G>A | GRCh38 |
| NC_000014.8:g.92436128G>A , CM000676.1:g.92436128G>A | GRCh37 |
| NC_000014.7:g.91505881G>A | NCBI36 |
| NG_016970.1:g.75276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5829C>T MANE Select | ENSP00000267622.4:p.Pro1943= | |
| ENST00000554357.5:c.4975C>T | ||
| NM_004239.3:c.5829C>T | NP_004230.2:p.Pro1943= | |
| XM_005268214.2:c.4503C>T | XP_005268271.1:p.Pro1501= | |
| XM_005268215.2:c.2799C>T | XP_005268272.1:p.Pro933= | |
| XM_006720321.2:c.5826C>T | XP_006720384.1:p.Pro1942= | |
| NM_001321851.1:c.5826C>T | NP_001308780.1:p.Pro1942= | |
| NM_004239.4:c.5829C>T MANE Select | NP_004230.2:p.Pro1943= | |
| XM_017021787.2:c.5124C>T | XP_016877276.1:p.Pro1708= | |
| XM_017021788.2:c.4503C>T | XP_016877277.1:p.Pro1501= |