Linked Data
gnomAD v4:
8-86671070-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671070C>A , CM000670.2:g.86671070C>A | GRCh38 |
| NC_000008.10:g.87683298C>A , CM000670.1:g.87683298C>A | GRCh37 |
| NC_000008.9:g.87752414C>A | NCBI36 |
| NG_016980.1:g.77606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.367G>T MANE Select | ENSP00000316605.5:p.Val123Phe | |
| ENST00000680314.1:n.128G>T | ||
| ENST00000681746.1:c.367G>T | ENSP00000505959.1:p.Val123Phe | |
| ENST00000320005.5:c.367G>T | ENSP00000316605.5:p.Val123Phe | |
| NM_019098.4:c.367G>T | NP_061971.3:p.Val123Phe | |
| XM_011517138.1:c.-48G>T | XP_011515440.1:n.-48G>T | |
| XM_011517138.2:c.-48G>T | XP_011515440.1:n.-48G>T | |
| NM_019098.5:c.367G>T MANE Select | NP_061971.3:p.Val123Phe |