Revel Score:
ENST00000291294 (MANE Select)
0.148
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46623592G>C , CM000681.2:g.46623592G>C | GRCh38 |
| NC_000019.9:g.47126849G>C , CM000681.1:g.47126849G>C | GRCh37 |
| NC_000019.8:g.51818689G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291294.7:c.634C>G MANE Select | ENSP00000291294.1:p.Arg212Gly | |
| ENST00000291294.6:c.634C>G | ENSP00000291294.1:p.Arg212Gly | |
| ENST00000594275.1:c.-78-18C>G | ENSP00000469408.1:n.-78-18C>G | |
| ENST00000595460.1:n.1156C>G | ||
| ENST00000596260.1:c.634C>G | ENSP00000468970.1:p.Arg212Gly | |
| ENST00000597185.1:c.-195+1361C>G | ENSP00000470566.1:n.-195+1361C>G | |
| ENST00000598865.5:c.-3C>G | ENSP00000470799.1:n.-3C>G | |
| NM_000960.3:c.634C>G | NP_000951.1:p.Arg212Gly | |
| XM_005259093.2:c.634C>G | XP_005259150.1:p.Arg212Gly | |
| XM_005259095.2:c.634C>G | XP_005259152.1:p.Arg212Gly | |
| XR_243945.2:n.768C>G | ||
| XR_430206.2:n.768C>G | ||
| XR_935844.1:n.768C>G | ||
| XM_005259093.3:c.634C>G | XP_005259150.1:p.Arg212Gly | |
| XM_005259095.4:c.634C>G | XP_005259152.1:p.Arg212Gly | |
| XR_243945.3:n.742C>G | ||
| XR_430206.3:n.742C>G | ||
| XR_935844.2:n.742C>G | ||
| NM_000960.4:c.634C>G MANE Select | NP_000951.1:p.Arg212Gly |