Revel Score:
ENST00000307395 (MANE Select)
0.732
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000526 (SAS)
Exomes Max Group AF
0.00054497 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061809T>C , CM000665.2:g.129061809T>C | GRCh38 |
| NC_000003.11:g.128780652T>C , CM000665.1:g.128780652T>C | GRCh37 |
| NC_000003.10:g.130263342T>C | NCBI36 |
| NG_008715.1:g.6008T>C , LRG_477:g.6008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.70T>C MANE Select | ENSP00000303942.4:p.Cys24Arg | |
| ENST00000307395.4:c.70T>C | ENSP00000303942.4:p.Cys24Arg | |
| NM_000174.4:c.70T>C , LRG_477t1:c.70T>C | NP_000165.1:p.Cys24Arg | |
| XM_005247374.3:c.70T>C | XP_005247431.1:p.Cys24Arg | |
| XM_011512701.1:c.70T>C | XP_011511003.1:p.Cys24Arg | |
| XM_011512702.1:c.70T>C | XP_011511004.1:p.Cys24Arg | |
| NM_000174.5:c.70T>C MANE Select | NP_000165.1:p.Cys24Arg |