Revel Score:
ENST00000401707 (MANE Select)
0.152
ENST00000349693
0.152
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00043016 (MID)
Exomes Max Group AF
0.00045291 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98140867C>G , CM000670.2:g.98140867C>G | GRCh38 |
| NC_000008.10:g.99153095C>G , CM000670.1:g.99153095C>G | GRCh37 |
| NC_000008.9:g.99222271C>G | NCBI36 |
| NG_052869.1:g.28575C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.1573C>G MANE Select | ENSP00000385787.2:p.Pro525Ala | |
| ENST00000349693.3:c.1573C>G | ENSP00000339529.3:p.Pro525Ala | |
| ENST00000401707.6:c.1573C>G | ENSP00000385787.2:p.Pro525Ala | |
| NM_001145860.1:c.1573C>G | NP_001139332.1:p.Pro525Ala | |
| NM_001145861.1:c.1573C>G | NP_001139333.1:p.Pro525Ala | |
| NM_015029.2:c.1573C>G | NP_055844.2:p.Pro525Ala | |
| XM_011516800.1:c.1573C>G | XP_011515102.1:p.Pro525Ala | |
| XM_011516801.1:c.1573C>G | XP_011515103.1:p.Pro525Ala | |
| XM_011516801.2:c.1573C>G | XP_011515103.1:p.Pro525Ala | |
| NM_001145860.2:c.1573C>G MANE Select | NP_001139332.1:p.Pro525Ala | |
| NM_001145861.2:c.1573C>G | NP_001139333.1:p.Pro525Ala | |
| NM_015029.3:c.1573C>G | NP_055844.2:p.Pro525Ala |