Revel Score:
ENST00000374708
0.156
ENST00000341947 (MANE Select)
0.156
ENST00000357486
0.156
ENST00000374714
0.156
ENST00000374713
0.156
ENST00000395197
0.156
ENST00000374712
0.156
ENST00000361917
0.156
ENST00000395196
0.156
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00029256 (SAS)
Genomes Max Group AF
0.0001691 (SAS)
Exomes Max Group AF
0.00027957 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165713G>A , CM000668.2:g.33165713G>A | GRCh38 |
| NC_000006.11:g.33133490G>A , CM000668.1:g.33133490G>A | GRCh37 |
| NC_000006.10:g.33241468G>A | NCBI36 |
| NG_011589.1:g.31756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.392C>T | ||
| ENST00000341947.7:c.4586C>T MANE Select | ENSP00000339915.2:p.Pro1529Leu | |
| ENST00000341947.6:c.4586C>T | ENSP00000339915.2:p.Pro1529Leu | |
| ENST00000361917.5:c.4265C>T | ENSP00000355123.1:p.Pro1422Leu | |
| ENST00000374708.8:c.4328C>T | ENSP00000363840.4:p.Pro1443Leu | |
| ENST00000477772.1:n.376C>T | ||
| NM_080679.2:c.4265C>T | NP_542410.2:p.Pro1422Leu | |
| NM_080680.2:c.4586C>T | NP_542411.2:p.Pro1529Leu | |
| NM_080681.2:c.4328C>T | NP_542412.2:p.Pro1443Leu | |
| XM_011514298.1:c.3740C>T | XP_011512600.1:p.Pro1247Leu | |
| XM_011514299.1:c.3872C>T | XP_011512601.1:p.Pro1291Leu | |
| XM_011514300.1:c.3692C>T | XP_011512602.1:p.Pro1231Leu | |
| XM_011514301.1:c.3629C>T | XP_011512603.1:p.Pro1210Leu | |
| XM_011514302.1:c.3473C>T | XP_011512604.1:p.Pro1158Leu | |
| XM_011514299.2:c.3872C>T | XP_011512601.1:p.Pro1291Leu | |
| XM_011514300.2:c.3692C>T | XP_011512602.1:p.Pro1231Leu | |
| XM_011514302.2:c.3473C>T | XP_011512604.1:p.Pro1158Leu | |
| XM_017010250.1:c.4586C>T | XP_016865739.1:p.Pro1529Leu | |
| XM_017010251.2:c.3404C>T | XP_016865740.1:p.Pro1135Leu | |
| NM_080680.3:c.4586C>T MANE Select | NP_542411.2:p.Pro1529Leu | |
| NM_080681.3:c.4328C>T | NP_542412.2:p.Pro1443Leu | |
| NM_080679.3:c.4265C>T | NP_542410.2:p.Pro1422Leu |