Revel Score:
ENST00000344938
0.076
ENST00000310917
0.076
ENST00000344408 (MANE Select)
0.076
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5568513G>A , CM000666.2:g.5568513G>A | GRCh38 |
| NC_000004.11:g.5570240G>A , CM000666.1:g.5570240G>A | GRCh37 |
| NC_000004.10:g.5621141G>A | NCBI36 |
| NG_015821.1:g.146036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3488C>T MANE Select | ENSP00000342144.5:p.Thr1163Ile | |
| ENST00000310917.6:c.3248C>T | ENSP00000311683.2:p.Thr1083Ile | |
| ENST00000344408.9:c.3488C>T | ENSP00000342144.5:p.Thr1163Ile | |
| ENST00000475313.5:c.3248C>T | ENSP00000431981.1:p.Thr1083Ile | |
| ENST00000509670.1:c.*1881C>T | ENSP00000423876.1:n.*1881C>T | |
| NM_001166136.1:c.3248C>T | NP_001159608.1:p.Thr1083Ile | |
| NM_147127.4:c.3488C>T | NP_667338.3:p.Thr1163Ile | |
| XM_011513392.1:c.3497C>T | XP_011511694.1:p.Thr1166Ile | |
| XM_011513393.1:c.3497C>T | XP_011511695.1:p.Thr1166Ile | |
| XM_011513394.1:c.3257C>T | XP_011511696.1:p.Thr1086Ile | |
| XM_017007736.1:c.3248C>T | XP_016863225.1:p.Thr1083Ile | |
| XM_017007737.1:c.3248C>T | XP_016863226.1:p.Thr1083Ile | |
| XM_017007739.1:c.1808C>T | XP_016863228.1:p.Thr603Ile | |
| XM_024453893.1:c.1808C>T | XP_024309661.1:p.Thr603Ile | |
| XR_001741141.1:n.3338C>T | ||
| NM_147127.5:c.3488C>T MANE Select | NP_667338.3:p.Thr1163Ile | |
| NM_001166136.2:c.3248C>T | NP_001159608.1:p.Thr1083Ile |