Revel Score:
ENST00000272895 (MANE Select)
0.923
ENST00000389661
0.923
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002548 (AFR)
Genomes Max Group AF
0.00001917 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978830C>T , CM000664.2:g.214978830C>T | GRCh38 |
| NC_000002.11:g.215843554C>T , CM000664.1:g.215843554C>T | GRCh37 |
| NC_000002.10:g.215551799C>T | NCBI36 |
| NG_007074.1:g.164598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4951G>A MANE Select | ENSP00000272895.7:p.Gly1651Ser | |
| ENST00000272895.11:c.4951G>A | ENSP00000272895.7:p.Gly1651Ser | |
| ENST00000389661.4:c.3997G>A | ENSP00000374312.4:p.Gly1333Ser | |
| NM_015657.3:c.3997G>A | NP_056472.2:p.Gly1333Ser | |
| NM_173076.2:c.4951G>A | NP_775099.2:p.Gly1651Ser | |
| NR_103740.1:n.5251G>A | ||
| XM_011510951.1:c.4960G>A | XP_011509253.1:p.Gly1654Ser | |
| XM_011510952.1:c.4960G>A | XP_011509254.1:p.Gly1654Ser | |
| XM_011510951.2:c.4960G>A | XP_011509253.1:p.Gly1654Ser | |
| NM_173076.3:c.4951G>A MANE Select | NP_775099.2:p.Gly1651Ser | |
| NR_103740.2:n.5449G>A | ||
| NM_015657.4:c.3997G>A | NP_056472.2:p.Gly1333Ser |