Revel Score:
ENST00000299314 (MANE Select)
0.807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760106G>A , CM000674.2:g.101760106G>A | GRCh38 |
| NC_000012.11:g.102153884G>A , CM000674.1:g.102153884G>A | GRCh37 |
| NC_000012.10:g.100678015G>A | NCBI36 |
| NG_021243.1:g.75762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3173C>T MANE Select | ENSP00000299314.7:p.Ser1058Leu | |
| ENST00000299314.11:c.3173C>T | ENSP00000299314.7:p.Ser1058Leu | |
| ENST00000549194.1:n.39C>T | ||
| NM_024312.4:c.3173C>T | NP_077288.2:p.Ser1058Leu | |
| XM_006719593.2:c.3173C>T | XP_006719656.1:p.Ser1058Leu | |
| XM_011538731.1:c.3092C>T | XP_011537033.1:p.Ser1031Leu | |
| XM_006719593.3:c.3173C>T | XP_006719656.1:p.Ser1058Leu | |
| XM_011538731.2:c.3092C>T | XP_011537033.1:p.Ser1031Leu | |
| XM_017019961.1:c.2957C>T | XP_016875450.1:p.Ser986Leu | |
| XM_017019962.2:c.1946C>T | XP_016875451.1:p.Ser649Leu | |
| NM_024312.5:c.3173C>T MANE Select | NP_077288.2:p.Ser1058Leu |