Linked Data
ClinVar Variation Id:
782639
ClinVar RCV Id:
RCV000964056
dbSNP Id:
rs141835953
ExAC:
19:16874672 G / T
gnomAD v2:
19-16874672-G-T
gnomAD v3:
19-16763861-G-T
gnomAD v4:
19-16763861-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16763861G>T , CM000681.2:g.16763861G>T | GRCh38 |
| NC_000019.9:g.16874672G>T , CM000681.1:g.16874672G>T | GRCh37 |
| NC_000019.8:g.16735672G>T | NCBI36 |
| NG_052795.1:g.49336G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524140.7:c.2167G>T MANE Select | ENSP00000428579.2:p.Val723Phe | |
| ENST00000646016.2:c.*1980G>T | ENSP00000496092.2:n.*1980G>T | |
| ENST00000673671.1:n.2593G>T | ||
| ENST00000673803.1:c.2167G>T | ENSP00000501265.1:p.Val723Phe | |
| ENST00000379808.7:c.2167G>T | ENSP00000369136.3:p.Val723Phe | |
| ENST00000438489.6:c.*2003G>T | ENSP00000400248.2:n.*2003G>T | |
| ENST00000518676.5:c.*2056G>T | ENSP00000428224.1:n.*2056G>T | |
| ENST00000524140.6:c.2167G>T | ENSP00000428579.2:p.Val723Phe | |
| ENST00000549814.5:c.2167G>T | ENSP00000447548.1:p.Val723Phe | |
| ENST00000552788.1:c.2167G>T | ENSP00000447224.1:p.Val723Phe | |
| NM_001007525.3:c.2167G>T | NP_001007526.3:p.Val723Phe | |
| NM_001290355.1:c.1762G>T | NP_001277284.1:p.Val588Phe | |
| XM_011527929.1:c.2167G>T | XP_011526231.1:p.Val723Phe | |
| XM_011527930.1:c.2167G>T | XP_011526232.1:p.Val723Phe | |
| XM_011527931.1:c.2167G>T | XP_011526233.1:p.Val723Phe | |
| XM_011527932.1:c.2167G>T | XP_011526234.1:p.Val723Phe | |
| XM_011527933.1:c.1549G>T | XP_011526235.1:p.Val517Phe | |
| XM_011527934.1:c.853G>T | XP_011526236.1:p.Val285Phe | |
| XM_011527935.1:c.2167G>T | XP_011526237.1:p.Val723Phe | |
| NM_001007525.4:c.2167G>T | NP_001007526.3:p.Val723Phe | |
| NM_001290355.2:c.1762G>T | NP_001277284.1:p.Val588Phe | |
| NM_001347994.1:c.1549G>T | NP_001334923.1:p.Val517Phe | |
| XM_011527930.2:c.2167G>T | XP_011526232.1:p.Val723Phe | |
| XM_011527931.2:c.2167G>T | XP_011526233.1:p.Val723Phe | |
| XM_017026669.1:c.1549G>T | XP_016882158.1:p.Val517Phe | |
| XM_024451466.1:c.2167G>T | XP_024307234.1:p.Val723Phe | |
| XM_024451467.1:c.2167G>T | XP_024307235.1:p.Val723Phe | |
| NM_001007525.5:c.2167G>T MANE Select | NP_001007526.3:p.Val723Phe | |
| NM_001290355.3:c.1762G>T | NP_001277284.1:p.Val588Phe |