Revel Score:
ENST00000348749 (MANE Select)
0.937
ENST00000261007
0.937
ENST00000409542
0.937
ENST00000409219
0.937
ENST00000409323
0.937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174753544G>T , CM000664.2:g.174753544G>T | GRCh38 |
| NC_000002.11:g.175618272G>T , CM000664.1:g.175618272G>T | GRCh37 |
| NC_000002.10:g.175326518G>T | NCBI36 |
| NG_008172.1:g.15929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.248C>A | ENSP00000490338.2:p.Ser83Tyr | |
| ENST00000672640.1:c.248C>A | ENSP00000500507.1:p.Ser83Tyr | |
| ENST00000261007.9:c.812C>A | ENSP00000261007.5:p.Ser271Tyr | |
| ENST00000348749.9:c.737C>A MANE Select | ENSP00000261008.5:p.Ser246Tyr | |
| ENST00000409219.5:c.737C>A | ENSP00000386611.1:p.Ser246Tyr | |
| ENST00000409323.1:c.737C>A | ENSP00000386684.1:p.Ser246Tyr | |
| ENST00000409542.5:c.491C>A | ENSP00000387026.1:p.Ser164Tyr | |
| ENST00000435083.5:c.*381C>A | ENSP00000395805.1:n.*381C>A | |
| NM_000079.3:c.737C>A | NP_000070.1:p.Ser246Tyr | |
| NM_001039523.2:c.812C>A | NP_001034612.1:p.Ser271Tyr | |
| XM_017003256.1:c.833C>A | XP_016858745.1:p.Ser278Tyr | |
| XM_017003257.1:c.758C>A | XP_016858746.1:p.Ser253Tyr | |
| NM_000079.4:c.737C>A MANE Select | NP_000070.1:p.Ser246Tyr | |
| NM_001039523.3:c.812C>A | NP_001034612.1:p.Ser271Tyr |