Linked Data
ClinVar Variation Id:
1259171
ClinVar RCV Id:
RCV001659408
dbSNP Id:
rs174536
gnomAD v2:
11-61551927-A-C
gnomAD v3:
11-61784455-A-C
gnomAD v4:
11-61784455-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61784455A>C , CM000673.2:g.61784455A>C | GRCh38 |
| NC_000011.9:g.61551927A>C , CM000673.1:g.61551927A>C | GRCh37 |
| NC_000011.8:g.61308503A>C | NCBI36 |
| NG_047038.1:g.36819A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278836.10:c.3300+70A>C (MYRF) MANE Select | ENSP00000278836.4:n.3300+70A>C | |
| ENST00000675319.1:c.2665+70A>C (MYRF) | ||
| ENST00000675345.1:c.1152+70A>C (MYRF) | ENSP00000502028.1:n.1152+70A>C | |
| ENST00000675792.1:c.286+70A>C (MYRF) | ||
| ENST00000265460.9:c.3180+70A>C (MYRF) | ENSP00000265460.5:n.3180+70A>C | |
| ENST00000278836.9:c.3300+70A>C (MYRF) | ENSP00000278836.4:n.3300+70A>C | |
| ENST00000389602.4:c.1458+70A>C (MYRF) | ENSP00000374253.4:n.1458+70A>C | |
| ENST00000535042.1:n.248+5330T>G (TMEM258) | ||
| ENST00000539361.1:n.2269A>C (MYRF) | ||
| NM_001127392.2:c.3300+70A>C (MYRF) | NP_001120864.1:n.3300+70A>C | |
| NM_013279.3:c.3180+70A>C (MYRF) | NP_037411.1:n.3180+70A>C | |
| XM_005274222.1:c.3303+70A>C (MYRF) | XP_005274279.1:n.3303+70A>C | |
| XM_005274223.1:c.3288+70A>C (MYRF) | XP_005274280.1:n.3288+70A>C | |
| XM_005274224.1:c.3285+70A>C (MYRF) | XP_005274281.1:n.3285+70A>C | |
| XM_005274225.1:c.3222+70A>C (MYRF) | XP_005274282.1:n.3222+70A>C | |
| XM_005274226.1:c.3219+70A>C (MYRF) | XP_005274283.1:n.3219+70A>C | |
| XM_005274227.1:c.3207+70A>C (MYRF) | XP_005274284.1:n.3207+70A>C | |
| XM_005274228.1:c.3150+70A>C (MYRF) | XP_005274285.1:n.3150+70A>C | |
| XM_011545234.1:c.2700+70A>C (MYRF) | XP_011543536.1:n.2700+70A>C | |
| XM_011545234.2:c.2700+70A>C (MYRF) | XP_011543536.1:n.2700+70A>C | |
| XM_024448677.1:c.2862+70A>C (MYRF) | XP_024304445.1:n.2862+70A>C | |
| NM_001127392.3:c.3300+70A>C (MYRF) MANE Select | NP_001120864.1:n.3300+70A>C | |
| NM_013279.4:c.3180+70A>C (MYRF) | NP_037411.1:n.3180+70A>C |