Linked Data
gnomAD v4:
8-118110029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110029C>T , CM000670.2:g.118110029C>T | GRCh38 |
| NC_000008.10:g.119122268C>T , CM000670.1:g.119122268C>T | GRCh37 |
| NC_000008.9:g.119191449C>T | NCBI36 |
| NG_007455.2:g.6791G>A , LRG_493:g.6791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.962+56G>A MANE Select | ENSP00000367446.3:n.962+56G>A | |
| ENST00000436216.2:c.330+56G>A | ||
| ENST00000378204.6:c.962+56G>A | ENSP00000367446.2:n.962+56G>A | |
| ENST00000436216.1:c.330+56G>A | ||
| ENST00000437196.1:c.73+945G>A | ENSP00000407299.1:n.73+945G>A | |
| NM_000127.2:c.962+56G>A , LRG_493t1:c.962+56G>A | NP_000118.2:n.962+56G>A | |
| NM_000127.3:c.962+56G>A MANE Select | NP_000118.2:n.962+56G>A |