Revel Score:
ENST00000226578
0.080
ENST00000505239
0.080
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102635920G>T , CM000666.2:g.102635920G>T | GRCh38 |
| NC_000004.11:g.103557077G>T , CM000666.1:g.103557077G>T | GRCh37 |
| NC_000004.10:g.103776125G>T | NCBI36 |
| NG_012804.1:g.130075C>A | |
| NG_012804.2:g.130075C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.2240C>A | ENSP00000495483.1:p.Thr747Lys | |
| ENST00000644159.1:c.2102C>A | ENSP00000494462.1:p.Thr701Lys | |
| ENST00000644545.1:c.*742C>A | ENSP00000493992.1:n.*742C>A | |
| ENST00000645348.1:c.*1124C>A | ENSP00000495363.1:n.*1124C>A | |
| ENST00000645558.1:c.1770C>A | ||
| ENST00000646311.1:c.*1222C>A | ENSP00000493465.1:n.*1222C>A | |
| ENST00000646727.1:c.*956C>A | ENSP00000493519.1:n.*956C>A | |
| ENST00000647097.2:c.2102C>A MANE Select | ENSP00000495247.1:p.Thr701Lys | |
| ENST00000647129.1:c.2191C>A | ENSP00000496137.1:n.2191C>A | |
| ENST00000226578.8:c.2102C>A | ENSP00000226578.4:p.Thr701Lys | |
| ENST00000505239.1:c.1931C>A | ENSP00000427322.1:p.Thr644Lys | |
| ENST00000508141.1:n.535C>A | ||
| ENST00000514430.5:n.6337C>A | ||
| NM_005908.3:c.2102C>A | NP_005899.3:p.Thr701Lys | |
| XM_011531965.1:c.1196C>A | XP_011530267.1:p.Thr399Lys | |
| XM_011531966.1:c.857C>A | XP_011530268.1:p.Thr286Lys | |
| XM_017008203.1:c.1739C>A | XP_016863692.1:p.Thr580Lys | |
| XM_017008204.2:c.1454C>A | XP_016863693.1:p.Thr485Lys | |
| XM_017008205.2:c.896C>A | XP_016863694.1:p.Thr299Lys | |
| XM_024454048.1:c.2027C>A | XP_024309816.1:p.Thr676Lys | |
| XM_024454049.1:c.1739C>A | XP_024309817.1:p.Thr580Lys | |
| NM_005908.4:c.2102C>A MANE Select | NP_005899.3:p.Thr701Lys |