Linked Data
ClinVar Variation Id:
1942186
ClinVar RCV Id:
RCV002653743
dbSNP Id:
rs782503624
ExAC:
19:42474460 C / T
gnomAD v2:
19-42474460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970308C>T , CM000681.2:g.41970308C>T | GRCh38 |
| NC_000019.9:g.42474460C>T , CM000681.1:g.42474460C>T | GRCh37 |
| NC_000019.8:g.47166300C>T | NCBI36 |
| NG_008015.1:g.28923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2458G>A | ENSP00000444688.1:p.Val820Ile | |
| ENST00000644613.1:c.2419G>A | ENSP00000494711.1:p.Val807Ile | |
| ENST00000648268.1:c.2419G>A MANE Select | ENSP00000498113.1:p.Val807Ile | |
| ENST00000302102.9:c.2419G>A | ENSP00000302397.5:p.Val807Ile | |
| ENST00000441343.5:c.2419G>A | ENSP00000411503.1:p.Val807Ile | |
| ENST00000543770.5:c.2452G>A | ENSP00000437577.1:p.Val818Ile | |
| ENST00000545399.5:c.2458G>A | ENSP00000444688.1:p.Val820Ile | |
| ENST00000602133.5:c.2329G>A | ENSP00000471581.1:p.Val777Ile | |
| NM_001256213.1:c.2452G>A | NP_001243142.1:p.Val818Ile | |
| NM_001256214.1:c.2458G>A | NP_001243143.1:p.Val820Ile | |
| NM_152296.4:c.2419G>A | NP_689509.1:p.Val807Ile | |
| XM_011526991.1:c.2329G>A | XP_011525293.1:p.Val777Ile | |
| NM_152296.5:c.2419G>A MANE Select | NP_689509.1:p.Val807Ile | |
| NM_001256214.2:c.2458G>A | NP_001243143.1:p.Val820Ile | |
| NM_001256213.2:c.2452G>A | NP_001243142.1:p.Val818Ile |