Revel Score:
ENST00000415807 (MANE Select)
0.124
ENST00000336824
0.124
ENST00000416957
0.124
ENST00000443501
0.124
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172251287C>T , CM000665.2:g.172251287C>T | GRCh38 |
| NC_000003.11:g.171969077C>T , CM000665.1:g.171969077C>T | GRCh37 |
| NC_000003.10:g.173451771C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415807.7:c.536C>T MANE Select | ENSP00000411242.2:p.Thr179Ile | |
| ENST00000336824.8:c.536C>T | ENSP00000338523.4:p.Thr179Ile | |
| ENST00000415807.6:c.536C>T | ENSP00000411242.2:p.Thr179Ile | |
| ENST00000416957.5:c.536C>T | ENSP00000389094.1:p.Thr179Ile | |
| ENST00000443501.1:c.455C>T | ENSP00000389064.1:p.Thr152Ile | |
| ENST00000469491.5:n.677C>T | ||
| NM_001135095.1:c.536C>T | NP_001128567.1:p.Thr179Ile | |
| NM_022763.3:c.536C>T | NP_073600.3:p.Thr179Ile | |
| XM_011513083.1:c.455C>T | XP_011511385.1:p.Thr152Ile | |
| XM_011513084.1:c.427+3511C>T | XP_011511386.1:n.427+3511C>T | |
| XM_017007062.1:c.508+3511C>T | XP_016862551.1:n.508+3511C>T | |
| XM_017007064.2:c.536C>T | XP_016862553.1:p.Thr179Ile | |
| XM_024453716.1:c.536C>T | XP_024309484.1:p.Thr179Ile | |
| XM_024453717.1:c.536C>T | XP_024309485.1:p.Thr179Ile | |
| NM_022763.4:c.536C>T MANE Select | NP_073600.3:p.Thr179Ile | |
| NM_001135095.2:c.536C>T | NP_001128567.1:p.Thr179Ile |