Revel Score:
ENST00000526018
0.003
ENST00000263863 (MANE Select)
0.114
ENST00000524600
0.114
ENST00000409696
0.114
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85697606C>G , CM000664.2:g.85697606C>G | GRCh38 |
| NC_000002.11:g.85924729C>G , CM000664.1:g.85924729C>G | GRCh37 |
| NC_000002.10:g.85778240C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263863.9:c.356C>G MANE Select | ENSP00000263863.5:p.Thr119Ser | |
| ENST00000263863.8:c.356C>G | ENSP00000263863.4:p.Thr119Ser | |
| ENST00000409696.7:c.311C>G | ENSP00000387116.3:p.Thr104Ser | |
| ENST00000489980.5:n.1800C>G | ||
| ENST00000524600.5:c.437C>G | ENSP00000436423.1:p.Thr146Ser | |
| ENST00000526018.1:c.256C>G | ||
| NM_001302758.1:c.437C>G | NP_001289687.1:p.Thr146Ser | |
| NM_006433.4:c.356C>G | NP_006424.2:p.Thr119Ser | |
| NM_012483.3:c.311C>G | NP_036615.2:p.Thr104Ser | |
| XM_005264084.2:c.337-958C>G | XP_005264141.1:n.337-958C>G | |
| XM_005264085.2:c.256-958C>G | XP_005264142.1:n.256-958C>G | |
| XM_005264087.2:c.211-958C>G | XP_005264144.1:n.211-958C>G | |
| NM_001302758.2:c.437C>G | NP_001289687.1:p.Thr146Ser | |
| NM_006433.5:c.356C>G MANE Select | NP_006424.2:p.Thr119Ser | |
| NM_012483.4:c.311C>G | NP_036615.2:p.Thr104Ser |