Revel Score:
ENST00000261195 (MANE Select)
0.815
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21558286G>C , CM000674.2:g.21558286G>C | GRCh38 |
| NC_000012.11:g.21711220G>C , CM000674.1:g.21711220G>C | GRCh37 |
| NC_000012.10:g.21602487G>C | NCBI36 |
| NG_016167.1:g.51562C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1336C>G MANE Select | ENSP00000261195.2:p.His446Asp | |
| ENST00000647960.1:c.*1338C>G | ENSP00000497202.1:n.*1338C>G | |
| ENST00000648372.1:n.1263C>G | ||
| ENST00000261195.2:c.1336C>G | ENSP00000261195.2:p.His446Asp | |
| NM_021957.3:c.1336C>G | NP_068776.2:p.His446Asp | |
| XM_005253352.1:c.1336C>G | XP_005253409.1:p.His446Asp | |
| XM_005253354.2:c.1117C>G | XP_005253411.1:p.His373Asp | |
| XM_006719062.2:c.1336C>G | XP_006719125.1:p.His446Asp | |
| XM_006719063.2:c.1105C>G | XP_006719126.1:p.His369Asp | |
| NM_021957.4:c.1336C>G MANE Select | NP_068776.2:p.His446Asp | |
| XM_006719063.3:c.1105C>G | XP_006719126.1:p.His369Asp | |
| XM_024448960.1:c.1336C>G | XP_024304728.1:p.His446Asp |