Linked Data
gnomAD v4:
8-117807377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807377C>T , CM000670.2:g.117807377C>T | GRCh38 |
| NC_000008.10:g.118819616C>T , CM000670.1:g.118819616C>T | GRCh37 |
| NC_000008.9:g.118888797C>T | NCBI36 |
| NG_007455.2:g.309443G>A , LRG_493:g.309443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1190G>A | ||
| ENST00000378204.7:c.1723G>A MANE Select | ENSP00000367446.3:p.Val575Met | |
| ENST00000378204.6:c.1723G>A | ENSP00000367446.2:p.Val575Met | |
| ENST00000437196.1:c.*614G>A | ENSP00000407299.1:n.*614G>A | |
| NM_000127.2:c.1723G>A , LRG_493t1:c.1723G>A | NP_000118.2:p.Val575Met | |
| NM_000127.3:c.1723G>A MANE Select | NP_000118.2:p.Val575Met |