Linked Data
ClinVar Variation Id:
2166832
dbSNP Id:
rs753655111
ExAC:
12:49424714 C / A
gnomAD v2:
12-49424714-C-A
gnomAD v3:
12-49030931-C-A
gnomAD v4:
12-49030931-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030931C>A , CM000674.2:g.49030931C>A | GRCh38 |
| NC_000012.11:g.49424714C>A , CM000674.1:g.49424714C>A | GRCh37 |
| NC_000012.10:g.47710981C>A | NCBI36 |
| NG_027827.1:g.29394G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.333G>T | ||
| ENST00000683543.2:c.13633G>T | ENSP00000506726.1:p.Val4545Phe | |
| ENST00000685166.1:c.13642G>T | ENSP00000509386.1:p.Val4548Phe | |
| ENST00000685982.1:c.139-163G>T | ENSP00000508613.1:n.139-163G>T | |
| ENST00000691986.1:c.138+244G>T | ENSP00000509196.1:n.138+244G>T | |
| ENST00000692637.1:c.13630G>T | ENSP00000509666.1:p.Val4544Phe | |
| ENST00000692973.1:c.234G>T | ENSP00000508893.1:n.234G>T | |
| ENST00000301067.12:c.13633G>T MANE Select | ENSP00000301067.7:p.Val4545Phe | |
| ENST00000301067.11:c.13633G>T | ENSP00000301067.7:p.Val4545Phe | |
| ENST00000552391.1:n.333G>T | ||
| NM_003482.3:c.13633G>T | NP_003473.3:p.Val4545Phe | |
| XM_005269162.3:c.13633G>T | XP_005269219.1:p.Val4545Phe | |
| XM_006719614.2:c.13642G>T | XP_006719677.1:p.Val4548Phe | |
| XM_006719616.2:c.13630G>T | XP_006719679.1:p.Val4544Phe | |
| XM_011538770.1:c.13642G>T | XP_011537072.1:p.Val4548Phe | |
| XM_011538771.1:c.13639G>T | XP_011537073.1:p.Val4547Phe | |
| XM_011538772.1:c.13633G>T | XP_011537074.1:p.Val4545Phe | |
| XM_011538773.1:c.13630G>T | XP_011537075.1:p.Val4544Phe | |
| XM_011538774.1:c.13621G>T | XP_011537076.1:p.Val4541Phe | |
| XM_011538775.1:c.13642G>T | XP_011537077.1:p.Val4548Phe | |
| XM_011538776.1:c.13549G>T | XP_011537078.1:p.Val4517Phe | |
| XR_944740.1:n.15962G>T | ||
| XM_005269162.4:c.13633G>T | XP_005269219.1:p.Val4545Phe | |
| XM_006719614.4:c.13642G>T | XP_006719677.1:p.Val4548Phe | |
| XM_006719616.3:c.13630G>T | XP_006719679.1:p.Val4544Phe | |
| XM_011538770.2:c.13642G>T | XP_011537072.1:p.Val4548Phe | |
| XM_011538771.2:c.13639G>T | XP_011537073.1:p.Val4547Phe | |
| XM_011538772.2:c.13633G>T | XP_011537074.1:p.Val4545Phe | |
| XM_011538773.2:c.13630G>T | XP_011537075.1:p.Val4544Phe | |
| XM_011538774.2:c.13621G>T | XP_011537076.1:p.Val4541Phe | |
| XM_011538776.2:c.13549G>T | XP_011537078.1:p.Val4517Phe | |
| XR_001748874.1:n.14951G>T | ||
| NM_003482.4:c.13633G>T MANE Select | NP_003473.3:p.Val4545Phe |