COSMIC:
COSM4003527 (not active)
COSM4003528 (not active)
COSM4003529 (not active)
COSM4003530 (not active)
Revel Score:
ENST00000351578
0.021
ENST00000515010
0.021
ENST00000512982 (MANE Select)
0.021
ENST00000505428
0.021
ENST00000540520
0.021
ENST00000542542
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7126669 (SAS)
Genomes Max Group AF
0.70245138 (NFE)
Exomes Max Group AF
0.71235982 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.39119621C>A , CM000667.2:g.39119621C>A | GRCh38 |
| NC_000005.9:g.39119723C>A , CM000667.1:g.39119723C>A | GRCh37 |
| NC_000005.8:g.39155480C>A | NCBI36 |
| NG_029596.1:g.156037G>T | |
| NG_029596.2:g.156037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351578.12:c.2014G>T | ENSP00000316460.7:p.Val672Phe | |
| ENST00000512982.4:c.2152G>T MANE Select | ENSP00000425845.3:p.Val718Phe | |
| ENST00000646045.2:c.2182G>T | ENSP00000493623.1:p.Val728Phe | |
| ENST00000646444.1:c.338G>T | ||
| ENST00000647313.1:n.146G>T | ||
| ENST00000351578.10:c.2014G>T | ENSP00000316460.7:p.Val672Phe | |
| ENST00000505428.5:c.2152G>T | ENSP00000427114.1:p.Val718Phe | |
| ENST00000512982.2:c.2182G>T | ENSP00000425845.2:p.Val728Phe | |
| ENST00000515010.5:c.2014G>T | ENSP00000426346.1:p.Val672Phe | |
| NM_001243093.1:c.2182G>T | NP_001230022.1:p.Val728Phe | |
| NM_001465.4:c.2152G>T | NP_001456.3:p.Val718Phe | |
| NM_199335.3:c.2014G>T | NP_955367.1:p.Val672Phe | |
| XM_006714464.2:c.2152G>T | XP_006714527.1:p.Val718Phe | |
| XM_006714465.2:c.2152G>T | XP_006714528.1:p.Val718Phe | |
| XM_006714466.2:c.2152G>T | XP_006714529.1:p.Val718Phe | |
| XM_011514008.1:c.2182G>T | XP_011512310.1:p.Val728Phe | |
| XM_011514009.1:c.2152G>T | XP_011512311.1:p.Val718Phe | |
| XM_011514010.1:c.2152G>T | XP_011512312.1:p.Val718Phe | |
| XM_011514011.1:c.2044G>T | XP_011512313.1:p.Val682Phe | |
| NM_001349333.1:c.2152G>T | NP_001336262.1:p.Val718Phe | |
| NM_001465.5:c.2152G>T | NP_001456.3:p.Val718Phe | |
| NM_018594.2:c.2044G>T | NP_061064.2:p.Val682Phe | |
| NM_199335.4:c.2014G>T | NP_955367.1:p.Val672Phe | |
| XM_006714464.3:c.2152G>T | XP_006714527.1:p.Val718Phe | |
| XM_011514008.3:c.2182G>T | XP_011512310.1:p.Val728Phe | |
| XM_011514011.2:c.2044G>T | XP_011512313.1:p.Val682Phe | |
| NM_001243093.2:c.2182G>T | NP_001230022.1:p.Val728Phe | |
| NM_001349333.2:c.2152G>T | NP_001336262.1:p.Val718Phe | |
| NM_001465.6:c.2152G>T MANE Select | NP_001456.3:p.Val718Phe | |
| NM_199335.5:c.2014G>T | NP_955367.1:p.Val672Phe |