Revel Score:
ENST00000353479
0.971
ENST00000369733
0.971
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104053064C>G , CM000672.2:g.104053064C>G | GRCh38 |
| NC_000010.10:g.105812822C>G , CM000672.1:g.105812822C>G | GRCh37 |
| NC_000010.9:g.105802812C>G | NCBI36 |
| NG_007069.1:g.37817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.1906G>C | ENSP00000358748.3:p.Gly636Arg | |
| ENST00000648076.2:c.1906G>C MANE Select | ENSP00000497653.1:p.Gly636Arg | |
| ENST00000353479.9:c.1906G>C | ENSP00000340937.5:p.Gly636Arg | |
| ENST00000369733.7:c.1906G>C | ENSP00000358748.3:p.Gly636Arg | |
| NM_000494.3:c.1906G>C | NP_000485.3:p.Gly636Arg | |
| NM_000494.4:c.1906G>C MANE Select | NP_000485.3:p.Gly636Arg |