Revel Score:
ENST00000512123 (MANE Select)
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78482426G>A , CM000666.2:g.78482426G>A | GRCh38 |
| NC_000004.11:g.79403580G>A , CM000666.1:g.79403580G>A | GRCh37 |
| NC_000004.10:g.79622604G>A | NCBI36 |
| NG_015812.1:g.429857G>A | |
| NG_015812.2:g.429857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8643G>A | ENSP00000508201.1:p.Pro2881= | |
| ENST00000512123.4:c.8643G>A MANE Select | ENSP00000422834.2:p.Pro2881= | |
| ENST00000512123.3:c.8643G>A | ENSP00000422834.2:p.Pro2881= | |
| NM_025074.6:c.8643G>A | NP_079350.5:p.Pro2881= | |
| XM_006714314.1:c.8637G>A | XP_006714377.1:p.Pro2879= | |
| XM_006714316.1:c.8415G>A | XP_006714379.1:p.Pro2805= | |
| XM_011532270.1:c.6342G>A | XP_011530572.1:p.Pro2114= | |
| XM_011532271.1:c.3531G>A | XP_011530573.1:p.Pro1177= | |
| XM_006714316.3:c.8415G>A | XP_006714379.1:p.Pro2805= | |
| NM_025074.7:c.8643G>A MANE Select | NP_079350.5:p.Pro2881= |