dbSNP:
Revel Score:
ENST00000209718 (MANE Select)
0.143
ENST00000436344
0.143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40928252T>A , CM000679.2:g.40928252T>A | GRCh38 |
| NC_000017.10:g.39084504T>A , CM000679.1:g.39084504T>A | GRCh37 |
| NC_000017.9:g.36338030T>A | NCBI36 |
| NG_012287.1:g.14333A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209718.8:c.907A>T MANE Select | ENSP00000209718.3:p.Thr303Ser | |
| ENST00000209718.7:c.907A>T | ENSP00000209718.3:p.Thr303Ser | |
| ENST00000436344.7:c.496A>T | ENSP00000414056.3:p.Thr166Ser | |
| ENST00000462312.5:c.*225A>T | ENSP00000462335.1:n.*225A>T | |
| ENST00000494691.5:c.*225A>T | ENSP00000464548.1:n.*225A>T | |
| ENST00000582754.5:n.1139A>T | ||
| NM_001282433.1:c.496A>T | NP_001269362.1:p.Thr166Ser | |
| NM_015515.4:c.907A>T | NP_056330.3:p.Thr303Ser | |
| XM_005257200.3:c.496A>T | XP_005257257.1:p.Thr166Ser | |
| XM_011524595.1:c.496A>T | XP_011522897.1:p.Thr166Ser | |
| XM_005257200.5:c.496A>T | XP_005257257.1:p.Thr166Ser | |
| XM_011524595.2:c.496A>T | XP_011522897.1:p.Thr166Ser | |
| NM_001282433.2:c.496A>T | NP_001269362.1:p.Thr166Ser | |
| NM_015515.5:c.907A>T MANE Select | NP_056330.3:p.Thr303Ser |