Revel Score:
ENST00000262407 (MANE Select)
0.218
ENST00000353281
0.218
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375913A>G , CM000679.2:g.44375913A>G | GRCh38 |
| NC_000017.10:g.42453281A>G , CM000679.1:g.42453281A>G | GRCh37 |
| NC_000017.9:g.39808807A>G | NCBI36 |
| NG_008331.1:g.18593T>C , LRG_479:g.18593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2521T>C MANE Select | ENSP00000262407.5:p.Ser841Pro | |
| ENST00000648408.1:c.1952T>C | ||
| ENST00000262407.5:c.2521T>C | ENSP00000262407.5:p.Ser841Pro | |
| ENST00000587295.5:c.173T>C | ||
| ENST00000592462.5:n.1316T>C | ||
| NM_000419.3:c.2521T>C , LRG_479t1:c.2521T>C | NP_000410.2:p.Ser841Pro | |
| XM_011524749.1:c.2521T>C | XP_011523051.1:p.Ser841Pro | |
| XM_011524750.1:c.2521T>C | XP_011523052.1:p.Ser841Pro | |
| NM_000419.4:c.2521T>C | NP_000410.2:p.Ser841Pro | |
| NM_000419.5:c.2521T>C MANE Select | NP_000410.2:p.Ser841Pro |