Revel Score:
ENST00000452319
0.372
ENST00000361492 (MANE Select)
0.372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120968870C>T , CM000664.2:g.120968870C>T | GRCh38 |
| NC_000002.11:g.121726446C>T , CM000664.1:g.121726446C>T | GRCh37 |
| NC_000002.10:g.121442916C>T | NCBI36 |
| NG_009030.1:g.176580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.800C>T MANE Select | ENSP00000354586.5:p.Ser267Leu | |
| ENST00000452319.6:c.800C>T | ENSP00000390436.1:p.Ser267Leu | |
| ENST00000314490.15:c.-139-1523C>T | ENSP00000312694.12:n.-139-1523C>T | |
| ENST00000341310.10:c.149-1523C>T | ENSP00000344473.6:n.149-1523C>T | |
| ENST00000360874.10:c.387C>T | ENSP00000441454.1:p.Leu129= | |
| ENST00000361492.8:c.800C>T | ENSP00000354586.4:p.Ser267Leu | |
| ENST00000433812.1:c.670C>T | ENSP00000402383.1:n.670C>T | |
| ENST00000435313.6:n.825C>T | ||
| ENST00000437950.5:c.149-1523C>T | ENSP00000415773.1:n.149-1523C>T | |
| ENST00000438299.5:c.149-1523C>T | ENSP00000400593.1:n.149-1523C>T | |
| ENST00000445186.5:c.149-1523C>T | ENSP00000397488.1:n.149-1523C>T | |
| ENST00000452319.5:c.800C>T | ENSP00000390436.1:p.Ser267Leu | |
| ENST00000452692.5:c.149-1523C>T | ENSP00000403715.1:n.149-1523C>T | |
| NM_005270.4:c.800C>T | NP_005261.2:p.Ser267Leu | |
| XM_006712422.1:c.800C>T | XP_006712485.1:p.Ser267Leu | |
| XM_011510969.1:c.782C>T | XP_011509271.1:p.Ser261Leu | |
| XM_011510970.1:c.659C>T | XP_011509272.1:p.Ser220Leu | |
| XM_011510971.1:c.605C>T | XP_011509273.1:p.Ser202Leu | |
| XM_011510972.1:c.605C>T | XP_011509274.1:p.Ser202Leu | |
| XM_011510973.1:c.425C>T | XP_011509275.1:p.Ser142Leu | |
| XM_011510974.1:c.425C>T | XP_011509276.1:p.Ser142Leu | |
| XM_006712422.3:c.800C>T | XP_006712485.1:p.Ser267Leu | |
| XM_011510969.2:c.1052C>T | XP_011509271.2:p.Ser351Leu | |
| XM_011510970.2:c.659C>T | XP_011509272.1:p.Ser220Leu | |
| XM_011510971.2:c.605C>T | XP_011509273.1:p.Ser202Leu | |
| XM_011510972.2:c.701C>T | XP_011509274.2:p.Ser234Leu | |
| XM_011510973.2:c.425C>T | XP_011509275.1:p.Ser142Leu | |
| XM_011510974.2:c.425C>T | XP_011509276.1:p.Ser142Leu | |
| XM_017003818.1:c.1052C>T | XP_016859307.1:p.Ser351Leu | |
| XM_024452794.1:c.800C>T | XP_024308562.1:p.Ser267Leu | |
| XM_024452795.1:c.800C>T | XP_024308563.1:p.Ser267Leu | |
| NM_001371271.1:c.800C>T | NP_001358200.1:p.Ser267Leu | |
| NM_001374353.1:c.800C>T MANE Select | NP_001361282.1:p.Ser267Leu | |
| NM_001374354.1:c.425C>T | NP_001361283.1:p.Ser142Leu | |
| NM_005270.5:c.800C>T | NP_005261.2:p.Ser267Leu |