Revel Score:
ENST00000447847
0.269
ENST00000379959 (MANE Select)
0.556
ENST00000397240
0.556
ENST00000379954
0.556
ENST00000256876
0.556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6025968T>G , CM000672.2:g.6025968T>G | GRCh38 |
| NC_000010.10:g.6067931T>G , CM000672.1:g.6067931T>G | GRCh37 |
| NC_000010.9:g.6107937T>G | NCBI36 |
| NG_007403.1:g.41342A>C , LRG_73:g.41342A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.122A>C | ENSP00000402024.2:p.Tyr41Ser | |
| ENST00000697424.1:c.122A>C | ENSP00000513307.1:p.Tyr41Ser | |
| ENST00000379959.8:c.122A>C MANE Select | ENSP00000369293.3:p.Tyr41Ser | |
| ENST00000256876.10:c.122A>C | ENSP00000256876.6:p.Tyr41Ser | |
| ENST00000379954.5:c.122A>C | ENSP00000369287.1:p.Tyr41Ser | |
| ENST00000379959.7:c.122A>C | ENSP00000369293.3:p.Tyr41Ser | |
| ENST00000447847.1:c.34A>C | ||
| NM_000417.2:c.122A>C , LRG_73t1:c.122A>C | NP_000408.1:p.Tyr41Ser | |
| NM_001308242.1:c.122A>C | NP_001295171.1:p.Tyr41Ser | |
| NM_001308243.1:c.122A>C | NP_001295172.1:p.Tyr41Ser | |
| NM_000417.3:c.122A>C MANE Select | NP_000408.1:p.Tyr41Ser | |
| NM_001308242.2:c.122A>C | NP_001295171.1:p.Tyr41Ser | |
| NM_001308243.2:c.122A>C | NP_001295172.1:p.Tyr41Ser |