Revel Score:
ENST00000367756
0.611
ENST00000541292
0.611
ENST00000318471 (MANE Select)
0.611
gnomAD v4:
Joint Max Group AF
0.00000987 (NFE)
Exomes Max Group AF
0.0000105 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136822705A>C , CM000668.2:g.136822705A>C | GRCh38 |
| NC_000006.11:g.137143843A>C , CM000668.1:g.137143843A>C | GRCh37 |
| NC_000006.10:g.137185536A>C | NCBI36 |
| NG_008462.1:g.5126A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.40A>C MANE Select | ENSP00000315680.3:p.Thr14Pro | |
| ENST00000541292.6:c.40A>C | ENSP00000441004.1:p.Thr14Pro | |
| ENST00000678593.1:c.40A>C | ENSP00000503841.1:p.Thr14Pro | |
| ENST00000318471.4:c.40A>C | ENSP00000315680.3:p.Thr14Pro | |
| ENST00000367756.8:c.40A>C | ENSP00000356730.4:p.Thr14Pro | |
| ENST00000541292.5:c.40A>C | ENSP00000441004.1:p.Thr14Pro | |
| NM_000288.3:c.40A>C | NP_000279.1:p.Thr14Pro | |
| XM_006715502.1:c.40A>C | XP_006715565.1:p.Thr14Pro | |
| XM_011535900.1:c.40A>C | XP_011534202.1:p.Thr14Pro | |
| XM_006715502.2:c.40A>C | XP_006715565.1:p.Thr14Pro | |
| XM_017010934.2:c.40A>C | XP_016866423.1:p.Thr14Pro | |
| NM_000288.4:c.40A>C MANE Select | NP_000279.1:p.Thr14Pro |