Linked Data
dbSNP Id:
rs369452859
gnomAD v2:
6-32609877-G-C
gnomAD v3:
6-32642100-G-C
gnomAD v4:
6-32642100-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642100G>C , CM000668.2:g.32642100G>C | GRCh38 |
| NC_000006.11:g.32609877G>C , CM000668.1:g.32609877G>C | GRCh37 |
| NC_000006.10:g.32717855G>C | NCBI36 |
| NG_032876.1:g.9695G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.460G>C MANE Select | ENSP00000339398.5:p.Val154Leu | |
| ENST00000343139.9:c.460G>C | ENSP00000339398.5:p.Val154Leu | |
| ENST00000374949.2:c.460G>C | ENSP00000364087.2:p.Val154Leu | |
| ENST00000395363.5:c.460G>C | ENSP00000378767.1:p.Val154Leu | |
| ENST00000460633.1:n.488G>C | ||
| ENST00000482745.5:c.*1292G>C | ENSP00000436546.1:n.*1292G>C | |
| ENST00000496318.5:c.460G>C | ENSP00000437302.1:p.Val154Leu | |
| NM_002122.3:c.460G>C | NP_002113.2:p.Val154Leu | |
| XM_006715079.2:c.460G>C | XP_006715142.1:p.Val154Leu | |
| XM_006715079.4:c.460G>C | XP_006715142.1:p.Val154Leu | |
| XR_001744085.1:n.86+488C>G | ||
| NM_002122.5:c.460G>C MANE Select | NP_002113.2:p.Val154Leu |