Revel Score:
ENST00000324001 (MANE Select)
0.064
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395144G>C , CM000681.2:g.40395144G>C | GRCh38 |
| NC_000019.9:g.40901051G>C , CM000681.1:g.40901051G>C | GRCh37 |
| NC_000019.8:g.45592891G>C | NCBI36 |
| NG_007979.1:g.23221C>G , LRG_265:g.23221C>G | |
| NG_051224.1:g.78C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3208C>G MANE Select | ENSP00000326018.6:p.Arg1070Gly | |
| ENST00000673881.1:c.2791C>G | ENSP00000501070.1:p.Arg931Gly | |
| ENST00000674005.2:c.3493C>G | ENSP00000501261.1:p.Arg1165Gly | |
| ENST00000674773.1:c.2791C>G | ENSP00000502579.1:p.Arg931Gly | |
| ENST00000675517.1:c.3083C>G | ||
| ENST00000676076.1:c.3069C>G | ||
| ENST00000676260.1:c.3170C>G | ||
| ENST00000676316.1:c.3095C>G | ||
| ENST00000291825.11:c.*3413C>G | ENSP00000291825.6:n.*3413C>G | |
| ENST00000324001.7:c.3208C>G | ENSP00000326018.6:p.Arg1070Gly | |
| NM_020956.2:c.*3413C>G , LRG_265t1:c.*3413C>G | NP_066007.1:n.*3413C>G | |
| NM_181882.2:c.3208C>G , LRG_265t2:c.3208C>G | NP_870998.2:p.Arg1070Gly | |
| XM_011527171.1:c.3208C>G | XP_011525473.1:p.Arg1070Gly | |
| XM_011527171.2:c.3208C>G | XP_011525473.1:p.Arg1070Gly | |
| XM_017027046.1:c.3106C>G | XP_016882535.1:p.Arg1036Gly | |
| XM_017027047.1:c.3106C>G | XP_016882536.1:p.Arg1036Gly | |
| NM_181882.3:c.3208C>G MANE Select | NP_870998.2:p.Arg1070Gly |