Revel Score:
ENST00000255078 (MANE Select)
0.642
ENST00000539224
0.642
gnomAD v4:
Joint Max Group AF
0.00000382 (SAS)
Exomes Max Group AF
0.00000404 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68903954T>C , CM000673.2:g.68903954T>C | GRCh38 |
| NC_000011.9:g.68671422T>C , CM000673.1:g.68671422T>C | GRCh37 |
| NC_000011.8:g.68427998T>C | NCBI36 |
| NG_007976.1:g.5104T>C , LRG_250:g.5104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2T>C MANE Select | ENSP00000255078.4:p.Met1Thr | |
| ENST00000674955.1:c.2T>C | ENSP00000502463.1:p.Met1Thr | |
| ENST00000675615.1:c.2T>C | ENSP00000502413.1:p.Met1Thr | |
| ENST00000676173.1:n.42T>C | ||
| ENST00000676228.1:c.2T>C | ENSP00000502375.1:p.Met1Thr | |
| ENST00000255078.7:c.2T>C | ENSP00000255078.3:p.Met1Thr | |
| ENST00000539224.1:c.2T>C | ENSP00000440465.1:p.Met1Thr | |
| ENST00000544541.1:c.2T>C | ENSP00000443343.1:p.Met1Thr | |
| ENST00000545146.1:c.2T>C | ENSP00000456366.1:p.Met1Thr | |
| NM_002180.2:c.2T>C , LRG_250t1:c.2T>C | NP_002171.2:p.Met1Thr | |
| XM_005273974.2:c.-1014T>C | XP_005274031.1:n.-1014T>C | |
| XM_005273976.1:c.2T>C | XP_005274033.1:p.Met1Thr | |
| XR_247198.1:n.104T>C | ||
| XR_949903.1:n.104T>C | ||
| XM_005273976.2:c.2T>C | XP_005274033.1:p.Met1Thr | |
| XM_017017669.2:c.-912T>C | XP_016873158.1:n.-912T>C | |
| XM_017017671.2:c.2T>C | XP_016873160.1:p.Met1Thr | |
| XR_949903.3:n.100T>C | ||
| NM_002180.3:c.2T>C MANE Select | NP_002171.2:p.Met1Thr |