Revel Score:
ENST00000369208 (MANE Select)
0.120
ENST00000262901
0.120
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100420903G>C , CM000668.2:g.100420903G>C | GRCh38 |
| NC_000006.11:g.100868779G>C , CM000668.1:g.100868779G>C | GRCh37 |
| NC_000006.10:g.100975500G>C | NCBI36 |
| NG_008230.1:g.47773C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369208.8:c.1054C>G (SIM1) MANE Select | ENSP00000358210.4:p.Pro352Ala | |
| ENST00000262901.4:c.1054C>G (SIM1) | ENSP00000262901.4:p.Pro352Ala | |
| ENST00000369208.7:c.1054C>G (SIM1) | ENSP00000358210.3:p.Pro352Ala | |
| NM_005068.2:c.1054C>G (SIM1) | NP_005059.2:p.Pro352Ala | |
| XM_005267100.2:c.1054C>G (SIM1) | XP_005267157.1:p.Pro352Ala | |
| XM_011536072.1:c.1054C>G (SIM1) | XP_011534374.1:p.Pro352Ala | |
| XM_011536073.1:c.1054C>G (SIM1) | XP_011534375.1:p.Pro352Ala | |
| XR_427994.2:n.490-6215G>C (SIM1-AS1) | ||
| XR_942814.1:n.490-6215G>C (SIM1-AS1) | ||
| XR_942815.1:n.490-6215G>C (SIM1-AS1) | ||
| XM_011536072.2:c.1054C>G (SIM1) | XP_011534374.1:p.Pro352Ala | |
| XM_017011197.1:c.1054C>G (SIM1) | XP_016866686.1:p.Pro352Ala | |
| XR_942814.3:n.494-6215G>C (SIM1-AS1) | ||
| XR_942815.3:n.494-6215G>C (SIM1-AS1) | ||
| NM_001374769.1:c.1054C>G (SIM1) | NP_001361698.1:p.Pro352Ala | |
| NM_005068.3:c.1054C>G (SIM1) MANE Select | NP_005059.2:p.Pro352Ala |