Revel Score:
ENST00000313468 (MANE Select)
0.837
ENST00000528492
0.837
ENST00000526339
0.837
ENST00000525419
0.837
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036321G>C , CM000673.2:g.68036321G>C | GRCh38 |
| NC_000011.9:g.67803788G>C , CM000673.1:g.67803788G>C | GRCh37 |
| NC_000011.8:g.67560364G>C | NCBI36 |
| NG_007878.1:g.2306G>C , LRG_115:g.2306G>C | |
| NG_017040.1:g.10705G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.441G>C MANE Select | ENSP00000315774.5:p.Met147Ile | |
| ENST00000313468.9:c.441G>C | ENSP00000315774.5:p.Met147Ile | |
| ENST00000524810.5:c.373G>C | ||
| ENST00000525419.5:c.387G>C | ENSP00000433521.1:p.Met129Ile | |
| ENST00000526339.5:c.441G>C | ENSP00000436287.1:p.Met147Ile | |
| ENST00000526446.5:c.*496G>C | ENSP00000433645.1:n.*496G>C | |
| ENST00000528492.1:c.3G>C | ENSP00000432848.1:p.Met1Ile | |
| ENST00000531282.1:n.293G>C | ||
| NM_002496.3:c.441G>C | NP_002487.1:p.Met147Ile | |
| XM_005274013.1:c.441G>C | XP_005274070.1:p.Met147Ile | |
| XM_005274014.1:c.441G>C | XP_005274071.1:p.Met147Ile | |
| XM_005274015.1:c.321G>C | XP_005274072.1:p.Met107Ile | |
| XM_011545053.1:c.441G>C | XP_011543355.1:p.Met147Ile | |
| NM_002496.4:c.441G>C MANE Select | NP_002487.1:p.Met147Ile |