Revel Score:
ENST00000506538
0.075
ENST00000513710 (MANE Select)
0.075
ENST00000505303
0.075
ENST00000504122
0.075
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111103810A>C , CM000667.2:g.111103810A>C | GRCh38 |
| NC_000005.9:g.110439509A>C , CM000667.1:g.110439509A>C | GRCh37 |
| NC_000005.8:g.110467408A>C | NCBI36 |
| NG_008979.1:g.16640A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.622A>C MANE Select | ENSP00000424628.3:p.Ile208Leu | |
| ENST00000504122.2:n.504A>C | ||
| ENST00000505303.5:n.758A>C | ||
| ENST00000506538.6:c.790A>C | ENSP00000423067.2:p.Ile264Leu | |
| ENST00000513710.3:c.622A>C | ENSP00000424628.3:p.Ile208Leu | |
| ENST00000612402.4:c.790A>C | ENSP00000479950.1:p.Ile264Leu | |
| NM_139281.2:c.790A>C | NP_644810.1:p.Ile264Leu | |
| XM_011543163.1:c.790A>C | XP_011541465.1:p.Ile264Leu | |
| NM_139281.3:c.622A>C MANE Select | NP_644810.2:p.Ile208Leu |