Revel Score:
ENST00000379802 (MANE Select)
0.131
ENST00000418664
0.131
ENST00000397483
0.131
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7576347A>C , CM000668.2:g.7576347A>C | GRCh38 |
| NC_000006.11:g.7576580A>C , CM000668.1:g.7576580A>C | GRCh37 |
| NC_000006.10:g.7521579A>C | NCBI36 |
| NG_008803.1:g.39711A>C , LRG_423:g.39711A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.2684A>C | ENSP00000518230.1:p.Tyr895Ser | |
| ENST00000379802.8:c.2684A>C MANE Select | ENSP00000369129.3:p.Tyr895Ser | |
| ENST00000379802.7:c.2684A>C | ENSP00000369129.3:p.Tyr895Ser | |
| ENST00000418664.2:c.2684A>C | ENSP00000396591.2:p.Tyr895Ser | |
| NM_001008844.1:c.2684A>C | NP_001008844.1:p.Tyr895Ser | |
| NM_004415.2:c.2684A>C , LRG_423t1:c.2684A>C | NP_004406.2:p.Tyr895Ser | |
| XM_011514323.1:c.2684A>C | XP_011512625.1:p.Tyr895Ser | |
| NM_001008844.2:c.2684A>C | NP_001008844.1:p.Tyr895Ser | |
| NM_001319034.1:c.2684A>C | NP_001305963.1:p.Tyr895Ser | |
| NM_004415.3:c.2684A>C | NP_004406.2:p.Tyr895Ser | |
| NM_004415.4:c.2684A>C MANE Select | NP_004406.2:p.Tyr895Ser | |
| NM_001008844.3:c.2684A>C | NP_001008844.1:p.Tyr895Ser | |
| NM_001319034.2:c.2684A>C | NP_001305963.1:p.Tyr895Ser |