Revel Score:
ENST00000447847
0.022
ENST00000379959 (MANE Select)
0.030
ENST00000397240
0.030
ENST00000379954
0.030
ENST00000256876
0.030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6024310G>C , CM000672.2:g.6024310G>C | GRCh38 |
| NC_000010.10:g.6066273G>C , CM000672.1:g.6066273G>C | GRCh37 |
| NC_000010.9:g.6106279G>C | NCBI36 |
| NG_007403.1:g.43000C>G , LRG_73:g.43000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.301C>G | ENSP00000402024.2:p.Gln101Glu | |
| ENST00000697424.1:c.301C>G | ENSP00000513307.1:p.Gln101Glu | |
| ENST00000379959.8:c.301C>G MANE Select | ENSP00000369293.3:p.Gln101Glu | |
| ENST00000256876.10:c.301C>G | ENSP00000256876.6:p.Gln101Glu | |
| ENST00000379954.5:c.301C>G | ENSP00000369287.1:p.Gln101Glu | |
| ENST00000379959.7:c.301C>G | ENSP00000369293.3:p.Gln101Glu | |
| ENST00000447847.1:c.213C>G | ||
| NM_000417.2:c.301C>G , LRG_73t1:c.301C>G | NP_000408.1:p.Gln101Glu | |
| NM_001308242.1:c.301C>G | NP_001295171.1:p.Gln101Glu | |
| NM_001308243.1:c.301C>G | NP_001295172.1:p.Gln101Glu | |
| NM_000417.3:c.301C>G MANE Select | NP_000408.1:p.Gln101Glu | |
| NM_001308242.2:c.301C>G | NP_001295171.1:p.Gln101Glu | |
| NM_001308243.2:c.301C>G | NP_001295172.1:p.Gln101Glu |