COSMIC:
COSM1355261 (not active)
COSM3752556 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61645439 (AMR)
Genomes Max Group AF
0.541238 (EAS)
Exomes Max Group AF
0.65574403 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61783884T>C , CM000673.2:g.61783884T>C | GRCh38 |
| NC_000011.9:g.61551356T>C , CM000673.1:g.61551356T>C | GRCh37 |
| NC_000011.8:g.61307932T>C | NCBI36 |
| NG_047038.1:g.36248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278836.10:c.3153T>C (MYRF) MANE Select | ENSP00000278836.4:p.Ser1051= | |
| ENST00000675319.1:c.2518T>C (MYRF) | ||
| ENST00000675345.1:c.903T>C (MYRF) | ENSP00000502028.1:p.Ser301= | |
| ENST00000675792.1:c.139T>C (MYRF) | ||
| ENST00000265460.9:c.3033T>C (MYRF) | ENSP00000265460.5:p.Ser1011= | |
| ENST00000278836.9:c.3153T>C (MYRF) | ENSP00000278836.4:p.Ser1051= | |
| ENST00000389602.4:c.1311T>C (MYRF) | ENSP00000374253.4:p.Ser437= | |
| ENST00000535042.1:n.249-4801A>G (TMEM258) | ||
| ENST00000539361.1:n.1698T>C (MYRF) | ||
| NM_001127392.2:c.3153T>C (MYRF) | NP_001120864.1:p.Ser1051= | |
| NM_013279.3:c.3033T>C (MYRF) | NP_037411.1:p.Ser1011= | |
| XM_005274222.1:c.3156T>C (MYRF) | XP_005274279.1:p.Ser1052= | |
| XM_005274223.1:c.3141T>C (MYRF) | XP_005274280.1:p.Ser1047= | |
| XM_005274224.1:c.3138T>C (MYRF) | XP_005274281.1:p.Ser1046= | |
| XM_005274225.1:c.3075T>C (MYRF) | XP_005274282.1:p.Ser1025= | |
| XM_005274226.1:c.3072T>C (MYRF) | XP_005274283.1:p.Ser1024= | |
| XM_005274227.1:c.3060T>C (MYRF) | XP_005274284.1:p.Ser1020= | |
| XM_005274228.1:c.3003T>C (MYRF) | XP_005274285.1:p.Ser1001= | |
| XM_011545234.1:c.2553T>C (MYRF) | XP_011543536.1:p.Ser851= | |
| XM_011545234.2:c.2553T>C (MYRF) | XP_011543536.1:p.Ser851= | |
| XM_024448677.1:c.2715T>C (MYRF) | XP_024304445.1:p.Ser905= | |
| NM_001127392.3:c.3153T>C (MYRF) MANE Select | NP_001120864.1:p.Ser1051= | |
| NM_013279.4:c.3033T>C (MYRF) | NP_037411.1:p.Ser1011= |