Revel Score:
ENST00000528431
0.059
ENST00000394955 (MANE Select)
0.059
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144504344C>G , CM000670.2:g.144504344C>G | GRCh38 |
| NC_000008.10:g.145729727C>G , CM000670.1:g.145729727C>G | GRCh37 |
| NC_000008.9:g.145700535C>G | NCBI36 |
| NG_015828.1:g.5263C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394955.3:c.40C>G MANE Select | ENSP00000378408.2:p.His14Asp | |
| ENST00000354769.8:n.205C>G | ||
| ENST00000394955.2:c.40C>G | ENSP00000378408.2:p.His14Asp | |
| ENST00000527165.5:n.608C>G | ||
| ENST00000527961.1:n.124C>G | ||
| ENST00000528431.5:c.40C>G | ENSP00000433586.1:p.His14Asp | |
| ENST00000531330.5:n.205C>G | ||
| ENST00000534702.5:n.205C>G | ||
| NM_005309.2:c.40C>G | NP_005300.1:p.His14Asp | |
| XM_011516993.1:c.40C>G | XP_011515295.1:p.His14Asp | |
| XR_928744.1:n.114+621G>C | ||
| XM_011516993.2:c.40C>G | XP_011515295.1:p.His14Asp | |
| XR_001746139.2:n.103+1028G>C | ||
| XR_001746140.2:n.253+621G>C | ||
| NM_005309.3:c.40C>G MANE Select | NP_005300.1:p.His14Asp | |
| NM_001382664.1:c.40C>G | NP_001369593.1:p.His14Asp | |
| NM_001382665.1:c.40C>G | NP_001369594.1:p.His14Asp | |
| NR_168476.1:n.205C>G | ||
| NR_168477.1:n.205C>G |