Revel Score:
ENST00000375326 (MANE Select)
0.096
ENST00000415431
0.096
ENST00000414122
0.096
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94606867C>G , CM000671.2:g.94606867C>G | GRCh38 |
| NC_000009.11:g.97369149C>G , CM000671.1:g.97369149C>G | GRCh37 |
| NC_000009.10:g.96408970C>G | NCBI36 |
| NG_008174.1:g.38383G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.813G>C | ENSP00000507547.1:n.813G>C | |
| ENST00000375326.9:c.653G>C MANE Select | ENSP00000364475.5:p.Arg218Thr | |
| ENST00000648117.1:c.458G>C | ENSP00000498145.1:p.Arg153Thr | |
| ENST00000375326.8:c.653G>C | ENSP00000364475.4:p.Arg218Thr | |
| ENST00000414122.1:c.401G>C | ENSP00000411619.1:p.Arg134Thr | |
| ENST00000415431.5:c.653G>C | ENSP00000408025.1:p.Arg218Thr | |
| NM_000507.3:c.653G>C | NP_000498.2:p.Arg218Thr | |
| NM_001127628.1:c.653G>C | NP_001121100.1:p.Arg218Thr | |
| XM_006717005.2:c.407G>C | XP_006717068.1:p.Arg136Thr | |
| XM_006717005.4:c.407G>C | XP_006717068.1:p.Arg136Thr | |
| NM_000507.4:c.653G>C MANE Select | NP_000498.2:p.Arg218Thr | |
| NM_001127628.2:c.653G>C | NP_001121100.1:p.Arg218Thr |