Linked Data
ClinVar Variation Id:
500808
dbSNP Id:
rs768564642
ExAC:
2:238253319 C / A
gnomAD v2:
2-238253319-C-A
gnomAD v4:
2-237344676-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344676C>A , CM000664.2:g.237344676C>A | GRCh38 |
| NC_000002.11:g.238253319C>A , CM000664.1:g.238253319C>A | GRCh37 |
| NC_000002.10:g.237918058C>A | NCBI36 |
| NG_008676.1:g.74532G>T , LRG_473:g.74532G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6724G>T | ENSP00000315873.4:p.Val2242Phe | |
| ENST00000295550.9:c.7342G>T MANE Select | ENSP00000295550.4:p.Val2448Phe | |
| ENST00000295550.8:c.7342G>T | ENSP00000295550.4:p.Val2448Phe | |
| ENST00000347401.7:c.5518G>T | ENSP00000315609.4:p.Val1840Phe | |
| ENST00000353578.8:c.6724G>T | ENSP00000315873.4:p.Val2242Phe | |
| ENST00000409809.5:c.6724G>T | ENSP00000386844.1:p.Val2242Phe | |
| ENST00000472056.5:c.5521G>T | ENSP00000418285.1:p.Val1841Phe | |
| ENST00000491769.1:n.1596G>T | ||
| NM_004369.3:c.7342G>T , LRG_473t1:c.7342G>T | NP_004360.2:p.Val2448Phe | |
| NM_057166.4:c.5521G>T | NP_476507.3:p.Val1841Phe | |
| NM_057167.3:c.6724G>T | NP_476508.2:p.Val2242Phe | |
| XM_005246065.1:c.6742G>T | XP_005246122.1:p.Val2248Phe | |
| XM_005246066.1:c.6121G>T | XP_005246123.1:p.Val2041Phe | |
| XM_006712253.1:c.6841G>T | XP_006712316.1:p.Val2281Phe | |
| XM_011510574.1:c.7339G>T | XP_011508876.1:p.Val2447Phe | |
| XM_011510575.1:c.4936G>T | XP_011508877.1:p.Val1646Phe | |
| XM_017003304.1:c.4936G>T | XP_016858793.1:p.Val1646Phe | |
| XM_024452684.1:c.6121G>T | XP_024308452.1:p.Val2041Phe | |
| NM_004369.4:c.7342G>T MANE Select | NP_004360.2:p.Val2448Phe | |
| NM_057166.5:c.5521G>T | NP_476507.3:p.Val1841Phe | |
| NM_057167.4:c.6724G>T | NP_476508.2:p.Val2242Phe |