COSMIC:
COSM3753939 (not active)
COSM3753940 (not active)
COSM3753941 (not active)
Revel Score:
ENST00000551634
0.015
ENST00000551492
0.015
ENST00000346562
0.015
ENST00000548645
0.015
ENST00000356141 (MANE Select)
0.015
ENST00000357798
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19281896 (AFR)
Genomes Max Group AF
0.19072439 (AFR)
Exomes Max Group AF
0.19298008 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33799961G>C , CM000676.2:g.33799961G>C | GRCh38 |
| NC_000014.8:g.34269167G>C , CM000676.1:g.34269167G>C | GRCh37 |
| NC_000014.7:g.33338918G>C | NCBI36 |
| NG_013036.1:g.865709G>C | |
| NG_013036.2:g.865709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1654G>C MANE Select | ENSP00000348460.4:p.Ala552Pro | |
| ENST00000551634.6:c.1663G>C | ENSP00000448373.2:p.Ala555Pro | |
| ENST00000680362.1:c.1554G>C | ||
| ENST00000681323.1:c.793+2380G>C | ||
| ENST00000346562.6:c.1558G>C | ENSP00000319610.5:p.Ala520Pro | |
| ENST00000356141.8:c.1654G>C | ENSP00000348460.4:p.Ala552Pro | |
| ENST00000357798.9:c.1615G>C | ENSP00000350446.5:p.Ala539Pro | |
| ENST00000548645.5:c.1564G>C | ENSP00000448916.1:p.Ala522Pro | |
| ENST00000551492.5:c.1669G>C | ENSP00000450392.1:p.Ala557Pro | |
| ENST00000551634.5:c.1576G>C | ENSP00000448373.1:p.Ala526Pro | |
| NM_001164749.1:c.1654G>C | NP_001158221.1:p.Ala552Pro | |
| NM_001165893.1:c.1564G>C | NP_001159365.1:p.Ala522Pro | |
| NM_022123.2:c.1558G>C | NP_071406.1:p.Ala520Pro | |
| NM_173159.2:c.1615G>C | NP_775182.1:p.Ala539Pro | |
| XM_005267991.2:c.1675G>C | XP_005268048.1:p.Ala559Pro | |
| XM_005267992.2:c.1669G>C | XP_005268049.1:p.Ala557Pro | |
| XM_005267993.2:c.1615G>C | XP_005268050.1:p.Ala539Pro | |
| XM_011537067.1:c.1705G>C | XP_011535369.1:p.Ala569Pro | |
| XM_011537068.1:c.1696G>C | XP_011535370.1:p.Ala566Pro | |
| XM_011537069.1:c.1666G>C | XP_011535371.1:p.Ala556Pro | |
| XM_011537070.1:c.1609G>C | XP_011535372.1:p.Ala537Pro | |
| XM_011537071.1:c.1576G>C | XP_011535373.1:p.Ala526Pro | |
| XM_011537072.1:c.1555G>C | XP_011535374.1:p.Ala519Pro | |
| XM_011537073.1:c.1348G>C | XP_011535375.1:p.Ala450Pro | |
| XM_011537074.1:c.1348G>C | XP_011535376.1:p.Ala450Pro | |
| XM_005267991.3:c.1762G>C | XP_005268048.2:p.Ala588Pro | |
| XM_005267992.3:c.1756G>C | XP_005268049.2:p.Ala586Pro | |
| XM_011537067.2:c.1705G>C | XP_011535369.1:p.Ala569Pro | |
| XM_011537069.2:c.1753G>C | XP_011535371.2:p.Ala585Pro | |
| XM_011537070.2:c.1609G>C | XP_011535372.1:p.Ala537Pro | |
| XM_011537071.2:c.1663G>C | XP_011535373.2:p.Ala555Pro | |
| XM_011537072.2:c.1555G>C | XP_011535374.1:p.Ala519Pro | |
| XM_017021582.1:c.1813G>C | XP_016877071.1:p.Ala605Pro | |
| XM_017021583.1:c.1804G>C | XP_016877072.1:p.Ala602Pro | |
| XM_017021584.1:c.1723G>C | XP_016877073.1:p.Ala575Pro | |
| XM_017021585.1:c.1672G>C | XP_016877074.1:p.Ala558Pro | |
| XM_017021586.1:c.1348G>C | XP_016877075.1:p.Ala450Pro | |
| XM_017021587.1:c.1348G>C | XP_016877076.1:p.Ala450Pro | |
| XM_017021588.1:c.1348G>C | XP_016877077.1:p.Ala450Pro | |
| NM_001164749.2:c.1654G>C MANE Select | NP_001158221.1:p.Ala552Pro | |
| NM_001165893.2:c.1564G>C | NP_001159365.1:p.Ala522Pro | |
| NM_022123.3:c.1558G>C | NP_071406.1:p.Ala520Pro | |
| NM_173159.3:c.1615G>C | NP_775182.1:p.Ala539Pro | |
| NM_001394988.1:c.1609G>C | NP_001381917.1:p.Ala537Pro | |
| NM_001394989.1:c.1555G>C | NP_001381918.1:p.Ala519Pro |