Linked Data
ClinVar Variation Id:
368485
dbSNP Id:
rs782060809
ExAC:
X:49854844 G / A
gnomAD v2:
X-49854844-G-A
gnomAD v3:
X-50090187-G-A
gnomAD v4:
X-50090187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50090187G>A , CM000685.2:g.50090187G>A | GRCh38 |
| NC_000023.10:g.49854844G>A , CM000685.1:g.49854844G>A | GRCh37 |
| NC_000023.9:g.49741584G>A | NCBI36 |
| NG_007159.3:g.172572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.1816G>A MANE Select | ENSP00000365259.3:p.Val606Met | |
| ENST00000642383.1:c.1138G>A | ENSP00000496353.1:p.Val380Met | |
| ENST00000642885.1:c.1606G>A | ENSP00000496632.1:p.Val536Met | |
| ENST00000643129.1:c.2103G>A | ||
| ENST00000646398.1:c.*991G>A | ENSP00000495122.1:n.*991G>A | |
| ENST00000307367.2:c.1606G>A | ENSP00000304257.2:p.Val536Met | |
| ENST00000376088.7:c.1816G>A | ENSP00000365256.3:p.Val606Met | |
| ENST00000376091.7:c.1816G>A | ENSP00000365259.3:p.Val606Met | |
| ENST00000376108.7:c.1606G>A | ENSP00000365276.3:p.Val536Met | |
| NM_000084.4:c.1606G>A | NP_000075.1:p.Val536Met | |
| NM_001127898.3:c.1816G>A | NP_001121370.1:p.Val606Met | |
| NM_001127899.3:c.1816G>A | NP_001121371.1:p.Val606Met | |
| NM_001282163.1:c.1666G>A | NP_001269092.1:p.Val556Met | |
| XM_011543888.1:c.1888G>A | XP_011542190.1:p.Val630Met | |
| XM_011543889.1:c.1678G>A | XP_011542191.1:p.Val560Met | |
| XM_017029257.1:c.1828G>A | XP_016884746.1:p.Val610Met | |
| XM_017029258.1:c.1828G>A | XP_016884747.1:p.Val610Met | |
| NM_001127898.4:c.1816G>A MANE Select | NP_001121370.1:p.Val606Met | |
| NM_000084.5:c.1606G>A | NP_000075.1:p.Val536Met | |
| NM_001127899.4:c.1816G>A | NP_001121371.1:p.Val606Met | |
| NM_001282163.2:c.1666G>A | NP_001269092.1:p.Val556Met |