Revel Score:
ENST00000209728 (MANE Select)
0.115
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40300899G>C , CM000679.2:g.40300899G>C | GRCh38 |
| NC_000017.10:g.38457151G>C , CM000679.1:g.38457151G>C | GRCh37 |
| NC_000017.9:g.35710677G>C | NCBI36 |
| NG_028240.1:g.18006G>C | |
| NG_028240.2:g.18021G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209728.9:c.1321G>C MANE Select | ENSP00000209728.4:p.Val441Leu | |
| ENST00000648633.1:n.10G>C | ||
| ENST00000649662.1:c.1321G>C | ENSP00000497345.1:p.Val441Leu | |
| ENST00000209728.8:c.1321G>C | ENSP00000209728.4:p.Val441Leu | |
| NM_001254.3:c.1321G>C | NP_001245.1:p.Val441Leu | |
| XM_011525541.1:c.1441G>C | XP_011523843.1:p.Val481Leu | |
| XM_011525542.1:c.1441G>C | XP_011523844.1:p.Val481Leu | |
| NM_001254.4:c.1321G>C MANE Select | NP_001245.1:p.Val441Leu | |
| XM_011525541.2:c.1441G>C | XP_011523843.1:p.Val481Leu |