Revel Score:
ENST00000299314 (MANE Select)
0.488
ENST00000549940
0.488
ENST00000547090
0.488
ENST00000392919
0.488
ENST00000549165
0.488
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003811 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00003872 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830666T>G , CM000674.2:g.101830666T>G | GRCh38 |
| NC_000012.11:g.102224444T>G , CM000674.1:g.102224444T>G | GRCh37 |
| NC_000012.10:g.100748575T>G | NCBI36 |
| NG_021243.1:g.5202A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.10A>C MANE Select | ENSP00000299314.7:p.Lys4Gln | |
| ENST00000299314.11:c.10A>C | ENSP00000299314.7:p.Lys4Gln | |
| ENST00000392919.4:c.10A>C | ENSP00000376651.4:p.Lys4Gln | |
| ENST00000549165.1:c.10A>C | ENSP00000450413.1:p.Lys4Gln | |
| ENST00000549940.5:c.10A>C | ENSP00000449150.1:p.Lys4Gln | |
| NM_024312.4:c.10A>C | NP_077288.2:p.Lys4Gln | |
| XM_006719593.2:c.10A>C | XP_006719656.1:p.Lys4Gln | |
| XM_006719593.3:c.10A>C | XP_006719656.1:p.Lys4Gln | |
| XM_017019961.1:c.-140A>C | XP_016875450.1:n.-140A>C | |
| XM_017019962.2:c.-1341A>C | XP_016875451.1:n.-1341A>C | |
| NM_024312.5:c.10A>C MANE Select | NP_077288.2:p.Lys4Gln |