Revel Score:
ENST00000359271 (MANE Select)
0.798
gnomAD v4:
Joint Max Group AF
0.00165852 (MID)
Exomes Max Group AF
0.00174331 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725279C>G , CM000682.2:g.46725279C>G | GRCh38 |
| NC_000020.10:g.45353918C>G , CM000682.1:g.45353918C>G | GRCh37 |
| NC_000020.9:g.44787325C>G | NCBI36 |
| NG_016284.1:g.20640C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.243C>G MANE Select | ENSP00000352216.2:p.Ser81Arg | |
| ENST00000359271.3:c.243C>G | ENSP00000352216.2:p.Ser81Arg | |
| ENST00000611837.1:n.395C>G | ||
| NM_030777.3:c.243C>G | NP_110404.1:p.Ser81Arg | |
| XM_011529060.1:c.306C>G | XP_011527362.1:p.Ser102Arg | |
| XM_011529061.1:c.252C>G | XP_011527363.1:p.Ser84Arg | |
| XM_011529062.1:c.306C>G | XP_011527364.1:p.Ser102Arg | |
| XM_011529063.1:c.306C>G | XP_011527365.1:p.Ser102Arg | |
| XM_011529064.1:c.306C>G | XP_011527366.1:p.Ser102Arg | |
| XM_011529065.1:c.306C>G | XP_011527367.1:p.Ser102Arg | |
| XR_936641.1:n.442C>G | ||
| XM_011529060.2:c.306C>G | XP_011527362.1:p.Ser102Arg | |
| XM_011529061.2:c.252C>G | XP_011527363.1:p.Ser84Arg | |
| XM_011529062.2:c.306C>G | XP_011527364.1:p.Ser102Arg | |
| XM_011529063.2:c.306C>G | XP_011527365.1:p.Ser102Arg | |
| XM_011529064.2:c.306C>G | XP_011527366.1:p.Ser102Arg | |
| XM_011529065.2:c.306C>G | XP_011527367.1:p.Ser102Arg | |
| XM_017028087.2:c.243C>G | XP_016883576.1:p.Ser81Arg | |
| XR_936641.2:n.429C>G | ||
| NM_030777.4:c.243C>G MANE Select | NP_110404.1:p.Ser81Arg |