Linked Data
ClinVar Variation Id:
2562704
ClinVar RCV Id:
RCV003296697
dbSNP Id:
rs565457053
ExAC:
19:35524424 G / A
gnomAD v2:
19-35524424-G-A
gnomAD v3:
19-35033520-G-A
gnomAD v4:
19-35033520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033520G>A , CM000681.2:g.35033520G>A | GRCh38 |
| NC_000019.9:g.35524424G>A , CM000681.1:g.35524424G>A | GRCh37 |
| NC_000019.8:g.40216264G>A | NCBI36 |
| NG_013359.1:g.7833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.229G>A | ENSP00000396915.2:p.Val77Met | |
| ENST00000262631.11:c.229G>A MANE Select | ENSP00000262631.3:p.Val77Met | |
| ENST00000415950.4:c.229G>A | ENSP00000396915.2:p.Val77Met | |
| ENST00000596348.2:c.130G>A | ENSP00000492247.1:p.Val44Met | |
| ENST00000638536.1:c.229G>A | ENSP00000492022.1:p.Val77Met | |
| ENST00000640135.1:c.130G>A | ENSP00000492655.1:p.Val44Met | |
| ENST00000675741.1:c.130G>A | ENSP00000502395.1:p.Val44Met | |
| ENST00000676410.1:c.130G>A | ENSP00000502717.1:p.Val44Met | |
| ENST00000262631.9:c.229G>A | ENSP00000262631.3:p.Val77Met | |
| ENST00000415950.3:c.229G>A | ENSP00000396915.2:p.Val77Met | |
| ENST00000595652.5:c.208-192G>A | ENSP00000468848.1:n.208-192G>A | |
| ENST00000596348.1:n.238G>A | ||
| NM_001037.4:c.229G>A | NP_001028.1:p.Val77Met | |
| NM_199037.3:c.229G>A | NP_950238.1:p.Val77Met | |
| XM_005259144.1:c.130G>A | XP_005259201.1:p.Val44Met | |
| NM_001321605.1:c.130G>A | NP_001308534.1:p.Val44Met | |
| NM_199037.4:c.229G>A | NP_950238.1:p.Val77Met | |
| NM_001037.5:c.229G>A MANE Select | NP_001028.1:p.Val77Met | |
| NM_001321605.2:c.130G>A | NP_001308534.1:p.Val44Met | |
| NM_199037.5:c.229G>A | NP_950238.1:p.Val77Met |