Linked Data
dbSNP Id:
rs779632051
ExAC:
19:39070718 G / T
gnomAD v2:
19-39070718-G-T
gnomAD v4:
19-38580078-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580078G>T , CM000681.2:g.38580078G>T | GRCh38 |
| NC_000019.9:g.39070718G>T , CM000681.1:g.39070718G>T | GRCh37 |
| NC_000019.8:g.43762558G>T | NCBI36 |
| NG_008866.1:g.151379G>T , LRG_766:g.151379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1397G>T | ||
| ENST00000688602.1:c.2794G>T | ||
| ENST00000689936.1:c.2766G>T | ||
| ENST00000359596.8:c.14461G>T MANE Select | ENSP00000352608.2:p.Val4821Phe | |
| ENST00000355481.8:c.14446G>T | ENSP00000347667.3:p.Val4816Phe | |
| ENST00000359596.7:c.14461G>T | ENSP00000352608.2:p.Val4821Phe | |
| ENST00000360985.7:c.14443G>T | ENSP00000354254.4:p.Val4815Phe | |
| NM_000540.2:c.14461G>T , LRG_766t1:c.14461G>T | NP_000531.2:p.Val4821Phe | |
| NM_001042723.1:c.14446G>T | NP_001036188.1:p.Val4816Phe | |
| XM_006723317.1:c.14443G>T | XP_006723380.1:p.Val4815Phe | |
| XM_006723319.1:c.14428G>T | XP_006723382.1:p.Val4810Phe | |
| XM_011527204.1:c.14458G>T | XP_011525506.1:p.Val4820Phe | |
| XM_011527205.1:c.14374G>T | XP_011525507.1:p.Val4792Phe | |
| XM_006723317.2:c.14443G>T | XP_006723380.1:p.Val4815Phe | |
| XM_006723319.2:c.14428G>T | XP_006723382.1:p.Val4810Phe | |
| XM_011527205.2:c.14374G>T | XP_011525507.1:p.Val4792Phe | |
| NM_000540.3:c.14461G>T MANE Select | NP_000531.2:p.Val4821Phe | |
| NM_001042723.2:c.14446G>T | NP_001036188.1:p.Val4816Phe |