Linked Data
ClinVar Variation Id:
723016
dbSNP Id:
rs150818139
ExAC:
X:70073000 G / A
gnomAD v2:
X-70073000-G-A
gnomAD v3:
X-70853150-G-A
gnomAD v4:
X-70853150-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70853150G>A , CM000685.2:g.70853150G>A | GRCh38 |
| NC_000023.10:g.70073000G>A , CM000685.1:g.70073000G>A | GRCh37 |
| NC_000023.9:g.69989725G>A | NCBI36 |
| NG_012574.1:g.60568C>T | |
| NG_012574.2:g.60568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374333.7:c.409C>T MANE Select | ENSP00000363453.2:p.Leu137= | |
| ENST00000344304.3:c.454C>T | ENSP00000340995.3:p.Leu152= | |
| ENST00000374333.6:c.409C>T | ENSP00000363453.2:p.Leu137= | |
| ENST00000395889.6:c.454C>T | ENSP00000379226.2:p.Leu152= | |
| NM_001003811.1:c.454C>T | NP_001003811.1:p.Leu152= | |
| NM_031276.2:c.409C>T | NP_112566.2:p.Leu137= | |
| XM_011530994.1:c.409C>T | XP_011529296.1:p.Leu137= | |
| XM_017029649.1:c.409C>T | XP_016885138.1:p.Leu137= | |
| NM_001003811.2:c.454C>T | NP_001003811.1:p.Leu152= | |
| NM_031276.3:c.409C>T MANE Select | NP_112566.2:p.Leu137= |