Revel Score:
ENST00000262407 (MANE Select)
0.797
ENST00000353281
0.797
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385193A>C , CM000679.2:g.44385193A>C | GRCh38 |
| NC_000017.10:g.42462561A>C , CM000679.1:g.42462561A>C | GRCh37 |
| NC_000017.9:g.39818087A>C | NCBI36 |
| NG_008331.1:g.9313T>G , LRG_479:g.9313T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.641T>G MANE Select | ENSP00000262407.5:p.Leu214Arg | |
| ENST00000648408.1:c.72T>G | ||
| ENST00000262407.5:c.641T>G | ENSP00000262407.5:p.Leu214Arg | |
| ENST00000589645.5:n.92T>G | ||
| ENST00000591990.5:n.3T>G | ||
| ENST00000592075.5:n.10T>G | ||
| ENST00000592226.5:n.10T>G | ||
| ENST00000592253.5:n.149T>G | ||
| ENST00000592944.1:n.323T>G | ||
| NM_000419.3:c.641T>G , LRG_479t1:c.641T>G | NP_000410.2:p.Leu214Arg | |
| XM_011524749.1:c.641T>G | XP_011523051.1:p.Leu214Arg | |
| XM_011524750.1:c.641T>G | XP_011523052.1:p.Leu214Arg | |
| NM_000419.4:c.641T>G | NP_000410.2:p.Leu214Arg | |
| NM_000419.5:c.641T>G MANE Select | NP_000410.2:p.Leu214Arg |