Linked Data
gnomAD v4:
5-179130012-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179130012C>G , CM000667.2:g.179130012C>G | GRCh38 |
| NC_000005.9:g.178557013C>G , CM000667.1:g.178557013C>G | GRCh37 |
| NC_000005.8:g.178489619C>G | NCBI36 |
| NG_023212.2:g.220317G>C | |
| NG_023212.3:g.220317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2377G>C | ENSP00000514008.1:p.Val793Leu | |
| ENST00000251582.12:c.2377G>C MANE Select | ENSP00000251582.7:p.Val793Leu | |
| ENST00000518335.3:c.2377G>C | ENSP00000489888.2:p.Val793Leu | |
| ENST00000251582.11:c.2377G>C | ENSP00000251582.7:p.Val793Leu | |
| NM_014244.4:c.2377G>C | NP_055059.2:p.Val793Leu | |
| NM_014244.5:c.2377G>C MANE Select | NP_055059.2:p.Val793Leu |