Revel Score:
ENST00000374708
0.341
ENST00000341947 (MANE Select)
0.341
ENST00000357486
0.341
ENST00000374714
0.341
ENST00000374713
0.341
ENST00000395197
0.341
ENST00000374712
0.341
ENST00000361917
0.341
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0025765 (EAS)
Genomes Max Group AF
0.00389863 (EAS)
Exomes Max Group AF
0.00225257 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171152G>A , CM000668.2:g.33171152G>A | GRCh38 |
| NC_000006.11:g.33138929G>A , CM000668.1:g.33138929G>A | GRCh37 |
| NC_000006.10:g.33246907G>A | NCBI36 |
| NG_011589.1:g.26317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3328C>T MANE Select | ENSP00000339915.2:p.Pro1110Ser | |
| ENST00000341947.6:c.3328C>T | ENSP00000339915.2:p.Pro1110Ser | |
| ENST00000361917.5:c.3007C>T | ENSP00000355123.1:p.Pro1003Ser | |
| ENST00000374708.8:c.3070C>T | ENSP00000363840.4:p.Pro1024Ser | |
| ENST00000477772.1:n.273-5336C>T | ||
| NM_080679.2:c.3007C>T | NP_542410.2:p.Pro1003Ser | |
| NM_080680.2:c.3328C>T | NP_542411.2:p.Pro1110Ser | |
| NM_080681.2:c.3070C>T | NP_542412.2:p.Pro1024Ser | |
| XM_011514298.1:c.2482C>T | XP_011512600.1:p.Pro828Ser | |
| XM_011514299.1:c.2614C>T | XP_011512601.1:p.Pro872Ser | |
| XM_011514300.1:c.2434C>T | XP_011512602.1:p.Pro812Ser | |
| XM_011514301.1:c.2371C>T | XP_011512603.1:p.Pro791Ser | |
| XM_011514302.1:c.2215C>T | XP_011512604.1:p.Pro739Ser | |
| XM_011514299.2:c.2614C>T | XP_011512601.1:p.Pro872Ser | |
| XM_011514300.2:c.2434C>T | XP_011512602.1:p.Pro812Ser | |
| XM_011514302.2:c.2215C>T | XP_011512604.1:p.Pro739Ser | |
| XM_017010250.1:c.3328C>T | XP_016865739.1:p.Pro1110Ser | |
| XM_017010251.2:c.2146C>T | XP_016865740.1:p.Pro716Ser | |
| NM_080680.3:c.3328C>T MANE Select | NP_542411.2:p.Pro1110Ser | |
| NM_080681.3:c.3070C>T | NP_542412.2:p.Pro1024Ser | |
| NM_080679.3:c.3007C>T | NP_542410.2:p.Pro1003Ser |