Revel Score:
ENST00000257904 (MANE Select)
0.589
ENST00000312990
0.589
ENST00000552254
0.589
ENST00000552388
0.589
ENST00000552862
0.589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57751648G>C , CM000674.2:g.57751648G>C | GRCh38 |
| NC_000012.11:g.58145431G>C , CM000674.1:g.58145431G>C | GRCh37 |
| NC_000012.10:g.56431698G>C | NCBI36 |
| NG_007484.2:g.5734C>G , LRG_490:g.5734C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.70C>G MANE Select | ENSP00000257904.5:p.Arg24Gly | |
| ENST00000257904.10:c.70C>G | ENSP00000257904.5:p.Arg24Gly | |
| ENST00000312990.10:c.70C>G | ENSP00000316889.6:p.Arg24Gly | |
| ENST00000546489.5:c.-4-306C>G | ENSP00000447779.1:n.-4-306C>G | |
| ENST00000547281.5:c.-153C>G | ENSP00000447274.1:n.-153C>G | |
| ENST00000549606.5:c.-158+527C>G | ENSP00000447005.1:n.-158+527C>G | |
| ENST00000550419.5:c.70C>G | ENSP00000448098.1:p.Arg24Gly | |
| ENST00000551706.1:n.279C>G | ||
| ENST00000551800.5:c.-153C>G | ENSP00000449391.1:n.-153C>G | |
| ENST00000551888.5:n.248C>G | ||
| ENST00000552254.5:c.70C>G | ENSP00000449179.1:p.Arg24Gly | |
| ENST00000552388.1:c.70C>G | ENSP00000448963.1:p.Arg24Gly | |
| ENST00000552862.1:c.70C>G | ENSP00000446763.1:p.Arg24Gly | |
| ENST00000553237.5:c.70C>G | ENSP00000448885.1:p.Arg24Gly | |
| NM_000075.3:c.70C>G | NP_000066.1:p.Arg24Gly | |
| NM_000075.4:c.70C>G MANE Select | NP_000066.1:p.Arg24Gly |