Revel Score:
ENST00000255189 (MANE Select)
0.155
ENST00000523732
0.155
ENST00000380311
0.155
ENST00000539598
0.155
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79044463A>C , CM000667.2:g.79044463A>C | GRCh38 |
| NC_000005.9:g.78340286A>C , CM000667.1:g.78340286A>C | GRCh37 |
| NC_000005.8:g.78376042A>C | NCBI36 |
| NG_012164.1:g.30164T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.835T>G MANE Select | ENSP00000255189.3:p.Ser279Ala | |
| ENST00000255189.7:c.835T>G | ENSP00000255189.3:p.Ser279Ala | |
| ENST00000517853.5:c.277-11055T>G | ENSP00000428995.1:n.277-11055T>G | |
| ENST00000518477.5:c.*69T>G | ENSP00000427834.1:n.*69T>G | |
| ENST00000521052.5:c.*133T>G | ENSP00000430133.1:n.*133T>G | |
| ENST00000523732.1:c.352T>G | ENSP00000430972.1:p.Ser118Ala | |
| NM_013391.3:c.835T>G MANE Select | NP_037523.2:p.Ser279Ala | |
| NR_104002.1:n.420T>G | ||
| NR_104003.1:n.331-11055T>G | ||
| XM_006714597.1:c.835T>G | XP_006714660.1:p.Ser279Ala | |
| XM_011543354.1:c.835T>G | XP_011541656.1:p.Ser279Ala | |
| XM_011543355.1:c.835T>G | XP_011541657.1:p.Ser279Ala | |
| XM_006714597.2:c.835T>G | XP_006714660.1:p.Ser279Ala | |
| XM_011543355.2:c.835T>G | XP_011541657.1:p.Ser279Ala | |
| NR_104002.2:n.420T>G | ||
| NR_104003.2:n.331-11055T>G | ||
| NR_104002.3:n.420T>G | ||
| NR_104003.3:n.331-11055T>G |