Linked Data
ClinVar Variation Id:
3176262
ClinVar RCV Id:
RCV004472138
dbSNP Id:
rs767787700
gnomAD v2:
X-70073166-T-A
gnomAD v3:
X-70853316-T-A
gnomAD v4:
X-70853316-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70853316T>A , CM000685.2:g.70853316T>A | GRCh38 |
| NC_000023.10:g.70073166T>A , CM000685.1:g.70073166T>A | GRCh37 |
| NC_000023.9:g.69989891T>A | NCBI36 |
| NG_012574.1:g.60402A>T | |
| NG_012574.2:g.60402A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374333.7:c.337A>T MANE Select | ENSP00000363453.2:p.Ile113Leu | |
| ENST00000344304.3:c.382A>T | ENSP00000340995.3:p.Ile128Leu | |
| ENST00000374333.6:c.337A>T | ENSP00000363453.2:p.Ile113Leu | |
| ENST00000395889.6:c.382A>T | ENSP00000379226.2:p.Ile128Leu | |
| NM_001003811.1:c.382A>T | NP_001003811.1:p.Ile128Leu | |
| NM_031276.2:c.337A>T | NP_112566.2:p.Ile113Leu | |
| XM_011530994.1:c.337A>T | XP_011529296.1:p.Ile113Leu | |
| XM_017029649.1:c.337A>T | XP_016885138.1:p.Ile113Leu | |
| NM_001003811.2:c.382A>T | NP_001003811.1:p.Ile128Leu | |
| NM_031276.3:c.337A>T MANE Select | NP_112566.2:p.Ile113Leu |