Linked Data
ClinVar Variation Id:
161665
ClinVar RCV Id:
RCV000149201
dbSNP Id:
rs193921094
gnomAD v3:
11-61774107-C-T
gnomAD v4:
11-61774107-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61774107C>T , CM000673.2:g.61774107C>T | GRCh38 |
| NC_000011.9:g.61541579C>T , CM000673.1:g.61541579C>T | GRCh37 |
| NC_000011.8:g.61298155C>T | NCBI36 |
| NG_047038.1:g.26471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278836.10:c.1256C>T (MYRF) MANE Select | ENSP00000278836.4:p.Thr419Met | |
| ENST00000675319.1:c.621C>T (MYRF) | ||
| ENST00000265460.9:c.1229C>T (MYRF) | ENSP00000265460.5:p.Thr410Met | |
| ENST00000278836.9:c.1256C>T (MYRF) | ENSP00000278836.4:p.Thr419Met | |
| ENST00000535042.1:n.520G>A (TMEM258) | ||
| NM_001127392.2:c.1256C>T (MYRF) | NP_001120864.1:p.Thr419Met | |
| NM_013279.3:c.1229C>T (MYRF) | NP_037411.1:p.Thr410Met | |
| XM_005274222.1:c.1256C>T (MYRF) | XP_005274279.1:p.Thr419Met | |
| XM_005274223.1:c.1256C>T (MYRF) | XP_005274280.1:p.Thr419Met | |
| XM_005274224.1:c.1256C>T (MYRF) | XP_005274281.1:p.Thr419Met | |
| XM_005274225.1:c.1256C>T (MYRF) | XP_005274282.1:p.Thr419Met | |
| XM_005274226.1:c.1256C>T (MYRF) | XP_005274283.1:p.Thr419Met | |
| XM_005274227.1:c.1256C>T (MYRF) | XP_005274284.1:p.Thr419Met | |
| XM_005274228.1:c.1103C>T (MYRF) | XP_005274285.1:p.Thr368Met | |
| XM_011545234.1:c.653C>T (MYRF) | XP_011543536.1:p.Thr218Met | |
| XM_011545234.2:c.653C>T (MYRF) | XP_011543536.1:p.Thr218Met | |
| XM_024448677.1:c.815C>T (MYRF) | XP_024304445.1:p.Thr272Met | |
| NM_001127392.3:c.1256C>T (MYRF) MANE Select | NP_001120864.1:p.Thr419Met | |
| NM_013279.4:c.1229C>T (MYRF) | NP_037411.1:p.Thr410Met |