Revel Score:
ENST00000472091 (MANE Select)
0.141
ENST00000542862
0.141
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11103848C>A , CM000668.2:g.11103848C>A | GRCh38 |
| NC_000006.11:g.11104081C>A , CM000668.1:g.11104081C>A | GRCh37 |
| NC_000006.10:g.11212067C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416247.4:c.76+9459C>A (SMIM13) MANE Select | ENSP00000451866.1:n.76+9459C>A | |
| ENST00000472091.2:c.1463G>T (ERVFRD-1) MANE Select | ENSP00000420174.1:p.Gly488Val | |
| ENST00000376935.4:c.76+9459C>A (SMIM13) | ENSP00000452219.1:n.76+9459C>A | |
| ENST00000416247.3:c.76+9459C>A (SMIM13) | ENSP00000451866.1:n.76+9459C>A | |
| ENST00000472091.1:c.1463G>T (ERVFRD-1) | ENSP00000420174.1:p.Gly488Val | |
| ENST00000542862.1:c.1463G>T (ERVFRD-1) | ENSP00000444461.1:p.Gly488Val | |
| NM_001135575.1:c.76+9459C>A (SMIM13) | NP_001129047.1:n.76+9459C>A | |
| NM_207582.2:c.1463G>T (ERVFRD-1) | NP_997465.1:p.Gly488Val | |
| NM_001135575.2:c.76+9459C>A (SMIM13) MANE Select | NP_001129047.1:n.76+9459C>A | |
| NM_207582.3:c.1463G>T (ERVFRD-1) MANE Select | NP_997465.1:p.Gly488Val |