Revel Score:
ENST00000262948 (MANE Select)
0.675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117556C>G , CM000681.2:g.4117556C>G | GRCh38 |
| NC_000019.9:g.4117554C>G , CM000681.1:g.4117554C>G | GRCh37 |
| NC_000019.8:g.4068554C>G | NCBI36 |
| NG_007996.1:g.11573G>C , LRG_750:g.11573G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.605G>C | ||
| ENST00000687128.1:n.605G>C | ||
| ENST00000262948.10:c.166G>C MANE Select | ENSP00000262948.4:p.Ala56Pro | |
| ENST00000262948.9:c.166G>C | ENSP00000262948.3:p.Ala56Pro | |
| ENST00000394867.8:c.-126G>C | ENSP00000378336.1:n.-126G>C | |
| ENST00000599345.1:n.363G>C | ||
| NM_030662.3:c.166G>C , LRG_750t1:c.166G>C | NP_109587.1:p.Ala56Pro | |
| XM_006722799.2:c.166G>C | XP_006722862.1:p.Ala56Pro | |
| XM_017026989.1:c.166G>C | XP_016882478.1:p.Ala56Pro | |
| XM_017026990.1:c.166G>C | XP_016882479.1:p.Ala56Pro | |
| XM_017026991.1:c.166G>C | XP_016882480.1:p.Ala56Pro | |
| NM_030662.4:c.166G>C MANE Select | NP_109587.1:p.Ala56Pro |