Revel Score:
ENST00000409663
0.049
ENST00000440693
0.049
ENST00000409959 (MANE Select)
0.049
ENST00000240487
0.049
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01255842 (NFE)
Genomes Max Group AF
0.01027086 (NFE)
Exomes Max Group AF
0.01266332 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153636464C>T , CM000666.2:g.153636464C>T | GRCh38 |
| NC_000004.11:g.154557616C>T , CM000666.1:g.154557616C>T | GRCh37 |
| NC_000004.10:g.154777066C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409959.8:c.4721C>T MANE Select | ENSP00000386787.3:p.Pro1574Leu | |
| ENST00000240487.5:c.4052C>T | ENSP00000240487.5:p.Pro1351Leu | |
| ENST00000409663.7:c.4718C>T | ENSP00000386574.3:p.Pro1573Leu | |
| ENST00000409959.7:c.4721C>T | ENSP00000386787.3:p.Pro1574Leu | |
| NM_001131007.1:c.4721C>T | NP_001124479.1:p.Pro1574Leu | |
| NM_015196.3:c.4718C>T | NP_056011.3:p.Pro1573Leu | |
| XM_005262871.3:c.2843C>T | XP_005262928.2:p.Pro948Leu | |
| XM_011531780.1:c.4808C>T | XP_011530082.1:p.Pro1603Leu | |
| XM_011531781.1:c.4805C>T | XP_011530083.1:p.Pro1602Leu | |
| XM_011531782.1:c.4778C>T | XP_011530084.1:p.Pro1593Leu | |
| XM_011531783.1:c.4556C>T | XP_011530085.1:p.Pro1519Leu | |
| XM_017007925.1:c.4718C>T | XP_016863414.1:p.Pro1573Leu | |
| XM_017007926.1:c.4715C>T | XP_016863415.1:p.Pro1572Leu | |
| XM_024453956.1:c.4778C>T | XP_024309724.1:p.Pro1593Leu | |
| XM_024453957.1:c.4775C>T | XP_024309725.1:p.Pro1592Leu | |
| XM_024453958.1:c.2843C>T | XP_024309726.1:p.Pro948Leu | |
| NM_001131007.2:c.4721C>T MANE Select | NP_001124479.1:p.Pro1574Leu | |
| NM_015196.4:c.4718C>T | NP_056011.3:p.Pro1573Leu |